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List of works by Roberto Giugliani

3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.

scientific article published on January 2005

A Brazilian galactosialidosis patient given renal transplantation: A case report

scientific article published on 21 October 2008

A Case of Early Infantile Pompe Disease with Atypical Manifestation

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

scientific article published on 26 January 2013

A clinical study of 77 patients with mucopolysaccharidosis type II

scientific article

A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity

scientific article published on 29 July 2014

A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)

scientific article published in February 2013

A comprehensive screening program in South Brazil

scientific article published on 01 January 1999

A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean

scientific article published on 14 February 2019

A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I

scientific article published on 26 November 2008

A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

scientific article

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI ⬇️

scientific article published on July 21, 2012

A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II

scientific article published on 04 June 2018

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

scientific article

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

scientific article

A simple protocol for transfecting human mesenchymal stem cells

scientific article published on 17 January 2018

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

scientific article

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

scientific article

A useful multi-analyte blood test for cerebrotendinous xanthomatosis

scientific article

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

scientific article published in October 2017

Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil

Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced acute liver failure in rats

scientific article published in February 2008

Age-Dependent Availability and Functionality of Bone Marrow Stem Cells in an Experimental Model of Acute and Chronic Myocardial Infarction ⬇️

scientific article published on January 1, 2011

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

scientific article

Alpha-mannosidase activity in goats fed with Sida carpinifolia.

scientific article published on 9 May 2009

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

scientific article published on 29 April 2016

Amino acids levels and lipid peroxidation in maple syrup urine disease patients.

scientific article

An evaluation of four methods for the detection of heterozygous cystinuria

scientific article published on 01 April 1987

An improved specific laboratory test for homocystinuria

scientific article published on 01 November 1982

An information service on teratogenic agents in Brazil

scientific article published on 01 January 1992

Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

scientific article published in March 2012

Angiokeratoma: a cutaneous marker of Fabry’s disease

article

Anthropometry, nutritional status, and dietary intake in pediatric patients with osteogenesis imperfecta

scientific article published on 01 January 2014

Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy

scientific article published on 22 August 2018

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

scientific article published on 22 January 2020

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil

scientific article published in 2005

Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients

scientific article published on December 1990

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

scientific article published on 18 November 2020

Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients

scientific article published on 01 June 2003

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

scientific article published on 01 January 2011

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

scientific article published on 01 August 1999

Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations

scientific article published on 24 December 2001

Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders ⬇️

scientific article published on 01 April 2013

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

scientific article published on 19 April 2020

Assessment of a pioneer metabolic information service in Brazil

scientific article published on 01 January 2006

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

scientific article published in October 2004

Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase

scientific article published on April 1, 1992

Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers

scientific article published in December 2005

Biochemical studies on leukocyte and fibroblast human beta-galactosidase

scientific article published on 01 April 1999

Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects

scientific article published on 01 May 2004

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

scientific article published on 14 May 2012

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy.

scientific article published on 22 July 2016

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

scientific article

Bone marrow mononuclear cell transplantation improves survival and induces hepatocyte proliferation in rats after CCl(4) acute liver damage

scientific article

Brain MRI in mucopolysaccharidosis: Effect of aging and correlation with biochemical findings

scientific article published on 01 August 2007

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases

scientific article

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI ⬇️

scientific article published on November 21, 2012

Broad clinical and laboratory spectrum found in 9 Niemann–Pick disease type C Southern Brazilian patients

scientific article published in February 2015

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

article

Börjeson-Forssman-Lehmann syndrome: report of a case

scientific article

CFTR gene: molecular analysis in patients from South Brazil

scientific article published in April 2003

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

scientific article

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts

scientific article published on 03 August 2018

CRISPR/Cas9-directed genome editing of human MPS I fibroblasts

CT hypodensity on cerebral white matter in Wilson's disease ⬇️

scientific article published on June 1, 1991

Cancer Genetic Counseling in Public Health Care Hospitals: The Experience of Three Brazilian Services

article

Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer

scientific article published on 22 April 2020

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management ⬇️

scientific article published on July 9, 2011

Cardiac pathology in Mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling

scientific article published on 04 November 2020

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis

scientific article published on 25 October 2019

Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice

scientific article published on 20 January 2018

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

scientific article published on 11 May 2016

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases ⬇️

scientific article published on May 26, 2011

Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects

scientific article published on 01 March 2000

Characterization of glycan substrates accumulating in GM1 Gangliosidosis

scientific article published on 03 November 2019

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

scientific article published on 17 December 2015

Characterization of joint disease in mucopolysaccharidosis type I mice

scientific article published on 21 June 2013

Chloramphenicol Enhances IDUA Activity on Fibroblasts from Mucopolysaccharidosis I Patients ⬇️

scientific article published on January 1, 2013

Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.

scientific article

Chromosome analysis in 31 cases of benign and malignant breast tumors: a study in Brazil

scientific article published on 01 January 2002

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

article

Clinical and biochemical effects of long-term vitamin A administration to a patient with Hurler-Scheie compound

scientific article published on 01 January 1984

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

article

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

scientific article published on 01 September 2004

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

scientific article published on 2 July 2010

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

scientific article published on 01 November 2000

Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil

scientific article published on 23 August 2007

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

scientific article published in June 2016

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

scientific article published on 17 July 2019

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

scientific article published on 23 May 2017

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

scientific article published on 3 October 2017

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy

scientific article published on 24 June 2020

Clinical research challenges in rare genetic diseases in Brazil

scientific article published on 03 June 2019

Cloramphenicol: A pharmacological chaperone?

scholarly article by Roberto Giugliani et al published February 2012 in Molecular Genetics and Metabolism

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

scientific article published on 06 May 2017

Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease

scientific article published on 08 January 2007

Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent

scientific article published on 03 February 2007

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

article

Congenital malformations detected in 731 autopsies of children aged 0 to 14 years

scientific article

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

scientific article published on 13 April 2017

Consistency of self-reported first-degree family history of cancer in a population-based study

scientific article published on 20 January 2009

Consumption of folic acid-fortified flour and folate-rich foods among women at reproductive age in South Brazil

scientific article published on 26 March 2008

Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion

scientific article published on 22 March 2006

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

scientific article published on 13 October 2017

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI.

scientific article

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

scientific article published on 18 September 2017

Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.

scientific article published in June 2007

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-21

scientific article published on 9 November 2017

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183

scientific article published on 20 June 2019

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

scientific article

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution

scientific article

Cytotoxic effect of amphotericin B in a myofibroblast cell line

scientific article published on 27 August 2013

DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards

scientific article published on 01 July 1993

DNA damage in Fabry patients: An investigation of oxidative damage and repair.

scientific article published on 28 April 2015

DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy ⬇️

scientific article published on February 18, 2011

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

scientific article published on 5 July 2016

Delivering genetic education and genetic counseling for rare diseases in rural Brazil

article

Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint ⬇️

scientific article published on August 1, 2013

Dermal melanocytosis associated with GM1-gangliosidosis type 1

scientific article published on 01 January 2006

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

scientific article published on 30 November 2011

Detection of Organic Acidemias in Brazil

article

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

article

Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia ⬇️

scientific article published on 01 June 1997

Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase

scientific article published on 01 January 2002

Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase

scientific article published on 01 October 2001

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

scientific article published on 7 January 2004

Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

scientific article

Development of a bile acid-based newborn screen for Niemann-Pick disease type C

scientific article published on May 2016

Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.

scientific article published on 25 February 2015

Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls ⬇️

scientific article published on March 1, 2012

Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity

scientific article published on 8 September 2017

Diagnosing communicating hydrocephalus in mucopolysaccharidoses: Correlation between cerebrospinal fluid flow imaging and lumbar pressure studies

scholarly article by Carolina Fischinger Moura de Souza published in February 2015

Diagnosing mucopolysaccharidosis IVA

scientific article published on February 2013

Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil

scientific article published on 01 June 2006

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry ⬇️

scientific article published on January 11, 2012

Diagnosis of Mucopolysaccharidoses

scientific article published on 22 March 2020

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

scientific article published on 25 July 2016

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

scientific article

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

scientific article published in June 2005

Does geographical location influence the phenotype of Fabry disease in women in Europe?

scientific article

ELAG - 10 Successful Years

scientific article published on March 2014

Early and unusual presentation of type I primary hyperoxaluria

scientific article published on January 1990

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.

scientific article published on 8 June 2017

Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I.

scientific article published in April 2002

Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes

scientific article published on 01 September 2000

Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts

scientific article published on 01 January 1999

Effects of cryopreservation and hypothermic storage on cell viability and enzyme activity in recombinant encapsulated cells overexpressing alpha-L-iduronidase.

scientific article published on May 2010

Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I

scientific article (publication date: 2015)

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

scientific article published on 23 May 2019

Effects of imilglucerase withdrawal on an adult with Gaucher disease

scientific article published on 01 June 2001

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

scientific article

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension st

scientific article published on 06 February 2019

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

scientific article published on 16 February 2017

Emerging drugs for the treatment of mucopolysaccharidoses.

scientific article

Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy

scientific article

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

scientific article published on 11 February 2014

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

scientific article published on 28 February 2013

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

scientific article published on 01 April 2006

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: long‐term cardiac effects of galsulfase (Naglazyme®) therapy ⬇️

scientific article published on June 5, 2012

Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice

scientific article published on 16 March 2013

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

scientific article

Epidemiology of mucopolysaccharidoses.

scientific article published on 26 May 2017

Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation.

scientific article published on February 2006

Erratum to “The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population” [Leuk. Res. 30 (2006) 477–481]

article

Establishment of glycosaminoglycan assays for mucopolysaccharidoses

scientific article

Estimated birth prevalence of mucopolysaccharidoses in Brazil

scientific article published on 11 January 2020

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

scientific article published on 18 November 2020

Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report

scientific article published on 11 October 2018

Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria.

scientific article published in April 1997

Evaluation of glucose-6-phosphate dehydrogenase stability in blood samples under different collection and storage conditions.

scientific article published in June 2005

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.

scientific article published on 21 February 2017

Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice

scientific article published on 04 July 2020

Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice

scientific article

Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy

scientific article

Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy

Expert recommendations for the laboratory diagnosis of MPS VI.

scientific article published on 10 February 2012

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

scientific article

Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease

scientific article published on 06 February 2014

Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases

scientific article published on 2 May 2015

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

scientific article published on 21 May 2013

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

scientific article published on 01 January 2008

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

scientific article published on 26 September 2014

Fabry disease: a new approach for the screening of females in high-risk groups.

scientific article published on 25 February 2014

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

scientific article published on 01 June 1999

Frequency of cystinuria among stone-forming patients in region of Brazil

scientific article published on 01 January 1986

Functional capacity evaluation of patients with mucopolysaccharidosis ⬇️

scientific article published on 01 January 2012

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

scientific article published on 01 August 2006

G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis

scientific article published on 26 January 2005

GM1 gangliosidosis: Clinical and laboratory findings in eight families

scientific article published in August 1985

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening

scientific article

Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease

scientific article

Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.

scientific article published on 4 May 2009

Gene delivery strategies for the treatment of mucopolysaccharidoses

scientific article published on 23 January 2014

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers.

scientific article published on 6 November 2017

Genetic causes of intellectual disability in a birth cohort: a population-based study

scientific article

Genetic predisposition to febrile convulsions: a preliminary study

scientific article published on 01 December 1980

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil

scientific article published on 20 September 2011

Genetics of homocysteine metabolism and associated disorders

scientific article

Genetics: an essential tool for the pediatrician of the 21st century

scientific article published on 01 August 2008

Genomic analysis of Brazilian patients with Fabry disease

scientific article published on 29 October 2007

Genomic rearrangements in BRCA1 and BRCA2: A literature review. ⬇️

scientific article

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

scientific article published on 02 July 2019

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

scientific article published on 06 October 2012

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

scientific article

Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil

scientific article published on 01 February 1999

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.

scientific article published on 6 November 2011

Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells

scientific article published on June 2017

Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil ⬇️

scientific article published on April 1, 2011

Glycogen storage disease type Ia: molecular study in Brazilian patients

scientific article published on 01 January 2001

Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

scientific article

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

scientific article published on 17 May 2018

Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy

scientific article published on 15 July 2014

Glycosidase active site mutations in human alpha-L-iduronidase.

scientific article published on September 2001

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

scientific article

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.

scientific article

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

scientific article published on 01 January 2005

Heterozygous cystinuria and urinary lithiasis

scientific article published on 01 December 1985

Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.

scientific article published on 17 November 2007

High frequency of type 1 GM1 gangliosidosis in southern Brazil

scientific article published on 01 August 1999

High immunocontent of S100 beta protein in amniotic fluid of pregnancies with Down syndrome

scientific article published on 01 November 2000

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

scientific article published on 13 August 2012

Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage

scientific article published on 31 August 2018

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

scientific article

Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies

scientific article published in July 2000

IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.

scientific article published on 30 October 2017

INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE.

scientific article

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

scientific article published in January 2003

Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

article

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

scientific article

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA

article

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.

scientific article

Identification of mutations in Colombian patients affected with Fabry disease.

scientific article published on 18 August 2015

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey

scientific article published in February 2011

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

scientific article published on 13 January 2017

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

scientific article

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

scientific article published on 5 December 2017

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

scientific article published on 23 August 2016

Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)

scientific article published on 23 June 2011

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

scientific article

Important aspects in the molecular diagnosis of mucopolysaccharidoses

scientific article published on 09 November 2012

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

scientific article published on 02 November 2020

Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease

scientific article published on 27 July 2006

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells

scientific article published on 17 September 2008

In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients

scientific article published in December 2013

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

scientific article published on 28 August 2018

Inborn Errors of Metabolism

scientific article published in November 1989

Inborn errors of metabolism in Latin America: challenges and opportunities

scientific article published on 08 May 2010

Inborn errors of metabolism. Sensitivity of screening tests in high risk patients

scientific article published in November 1989

Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

scientific article published on 4 June 2007

Inclusion of medical genetics in primary health care: report of a pilot project in Brazil ⬇️

scientific article published on July 25, 2012

Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.

scientific article published in September 2007

Infantile sialic acid storage disease: report of the first case in South America

scientific article published on 01 May 1999

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Initial report from the Hunter Outcome Survey

scientific article published in July 2008

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

scientific article published on 06 September 2016

Interleukin-15 favors the expansion of central memory CD8+ T cells in ex vivo generated, antileukemia human cytotoxic T lymphocyte lines.

scientific article published in May 2008

International guidelines for the management and treatment of Morquio A syndrome.

scientific article published on 24 October 2014

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

scientific article

Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice

scientific article published on 3 April 2012

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

scientific article published on 5 December 2009

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

scientific article published on 01 October 2008

Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease

scientific article published on 20 December 2017

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis

scientific article published on 01 August 2004

Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil

article

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

scientific article

Investigation of oxidative stress parameters in treated phenylketonuric patients.

scientific article published on 5 December 2006

Is there an association between cancer mortality and agrotoxics use? A contribution to the debate

scientific article published in January 2010

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

scientific article published on 01 February 2006

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

scientific article published on 01 January 2005

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

scientific article published in January 2009

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

scientific article published on 25 March 2015

Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.

scientific article

Lessons from molecular modeling human α-L-iduronidase.

scientific article published on 18 October 2014

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

scientific article published on 5 March 2015

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

scientific article published on 16 June 2016

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

scientific article

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

scientific article published on 23 May 2008

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.

scientific article published on 8 March 2018

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

scientific article published on 9 November 2017

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: a large retrospective observational study

scientific article published on 23 April 2020

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

scientific article published on 01 February 2011

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

scientific article published on November 2014

Look carefully to the heels! A potentially treatable cause of spastic paraplegia

scientific article published on 12 August 2014

Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I.

scientific article published on 3 February 2017

Lysosomal diseases: Overview on current diagnosis and treatment

scientific article published on 25 April 2019

Lysosomal enzymes may cross the blood-brain-barrier by pinocytosis: implications for enzyme replacement therapy

scientific article published on 5 February 2014

MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

article

Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

article

Magnetic resonance imaging findings in Hunter syndrome

scientific article

Management guidelines for mucopolysaccharidosis VI.

scientific article published on August 2007

Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles.

scientific article

Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation

scientific article published on August 1996

Medical Genetics - Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil

scientific article published on 11 April 2019

Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil

scientific article

Metabolic factors in urolithiasis: a study in Brazil

scientific article published on 01 October 1980

MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease

article

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

scientific article published on 06 September 2014

Microsatellite instability testing in genetically heterogeneous populations

scientific article published on 01 March 2007

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

scientific article

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

scientific article

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

scientific article published on 26 April 2017

Molecular analysis of thePi*Z allele in patients with liver disease

scientific article published on 01 December 2001

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

scientific article published on 29 November 2017

Molecular characterization of 103 South American patients with mucopolysaccharidosis type II reveals 30 novel mutations

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

scientific article published on 22 June 2019

Molecular characterization of phenylketonuria in South Brazil

scientific article published in May 2003

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

scientific article

Mucopolysacccharidoses: from understanding to treatment, a century of discoveries ⬇️

scientific article published on December 18, 2012

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

scientific article published in July 2008

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.

scientific article

Mucopolysaccharidosis

article

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

scientific article

Mucopolysaccharidosis Type I

scientific article published on 16 March 2020

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report

scientific article

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

article

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

scientific article published in September 2013

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength

article

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

scientific article

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

scientific article

Multidisciplinary management of Hunter syndrome.

scientific article

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

scientific article published on 05 November 2019

Mutation analysis of phenylketonuria in south Brazil

scientific article published in January 1996

Mutational analysis of 105 mucopolysaccharidosis type VI patients

scientific article published in September 2007

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants

scientific article

Nager's acrofacial dysostosis with thumb duplication: report of a case

scientific article published on 01 September 1984

Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick C

scientific article published on 13 January 2020

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey.

scientific article published on 26 May 2009

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study

scientific article published on 24 April 2014

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

scientific article published on 13 November 2020

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

scientific article published on 11 December 2019

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil

scientific article published on 01 April 2018

Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio Grande do Sul, Brazil

scientific article published in May 2002

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

scientific article published on 01 October 2003

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 t

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n

scientific article published in June 2001

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

scientific article published on 24 October 2017

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

scientific article

Neurological phenotypes in Niemann-Pick disease type C (NPC): clinical, biochemical and neuroradiological retrospective review of 48 Brazilian patients

scientific article published in February 2014

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

scientific article published on 16 December 2008

Newborn Screening for Pompe Disease

scientific article published in July 2017

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

scientific article

Newborn screening for congenital infectious diseases

scientific article published in June 2004

Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America ⬇️

scientific article published on January 10, 2012

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

scientific article published on 01 January 2020

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

scientific article published on 7 October 2016

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene

scientific article published on 28 February 2019

Niemann-Pick disease type C: a case series of Brazilian patients

scientific article published in March 2014

Non-immune hydrops fetalis: A prospective study of 53 cases

scientific article published on 16 August 2013

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model

scientific article published in January 2005

Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses

scientific article

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease

scientific article published on 9 October 2012

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

scientific article

Ontogenetic changes in serum S100B in Down syndrome patients

scientific article published in May 2005

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

scientific article published in January 2011

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

scientific article published on 18 September 2020

Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey ⬇️

scientific article published on September 23, 2010

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

scientific article published on 29 May 2016

Oxidative damage and redox in Lysosomal Storage Disorders: Biochemical markers

scientific article published on 9 January 2017

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels.

scientific article published on 25 April 2017

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy.

scientific article published on 19 February 2015

Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy ⬇️

scientific article published on February 26, 2011

Oxidative stress in patients with phenylketonuria.

scientific article published on 25 February 2005

Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy

scientific article published on 2 October 2007

Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease

scientific article published in February 2015

Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII.

scientific article

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs.

scientific article published on 25 June 2013

Persistent tyrosinemia detected by thin-layer chromatography

scientific article published on 01 January 1999

Phase I and II clinical trials for the mucopolysaccharidoses.

scientific article published on 25 October 2017

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

scientific article published on 11 April 2019

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

scientific article

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

scientific article published on 22 March 2011

Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I.

scientific article published on 13 February 2018

Polymorphic Variants of UGT1A1 in Neonatal Jaundice in Southern Brazil

article

Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening

scientific article published on 01 January 2007

Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients

scientific article published in August 2016

Population analysis of the GLB1 gene in South Brazil ⬇️

scientific article published on March 1, 2011

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil ⬇️

scientific article

Possible high frequency of tetrahydrobiopterin deficiency in south Brazil

scientific article published in January 1994

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

scientific article published on 12 June 2011

Precision Medicine for Lysosomal Disorders

scientific article published on 26 July 2020

Prediction of the molecular consequences of aminoacid substitutions in the GALNS gene using in silico tools

article

Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study

article

Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report

scientific article published on 01 January 2010

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

scientific article published on September 2016

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

scientific article published on 17 May 2012

Prevalence of G6PD deficiency in newborns in the south of Brazil

scientific article published on 01 January 2006

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

scientific article published on 20 December 2011

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.

scientific article published on 11 March 2011

Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

article

Prevalence of thrombophilia and thrombotic events inpatients with Fabry disease in a reference center forlysosomal disorders in Southern Brazil

article

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice

scientific article published in January 2000

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

scientific article published on 30 January 2020

Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity

scientific article published on 6 January 2017

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

scientific article published in November 1987

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II

article

Protracted course of Krabbe disease in an adult patient bearing a novel mutation

scientific article published in August 1999

Punctate calcifications in lysosomal storage disorders

scientific article published on 01 July 2009

Pyridoxine-dependent seizures associated with white matter abnormalities

scientific article published on 01 October 1994

RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents

scientific article published on March 2014

Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation

article

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

scientific article published in 2016

Re: Metabolic factors in urolithiasis: a study in Brazil

scientific article published in February 1987

Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI ⬇️

scientific article published on June 1, 2011

Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses

scientific article published on 26 September 2018

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

scientific article published on February 2008

Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells

scientific article

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

scientific article published on 29 November 2018

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

scientific article published on 13 June 2019

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

scientific article

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

scientific article published on 14 July 2012

Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study

scientific article published on 01 February 1997

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

scientific article

Reliable detection of mucopolysacchariduria in dried-urine filter paper samples ⬇️

scientific article published on November 21, 2012

Renal-coloboma syndrome in a Brazilian family

scientific article published on 01 October 2001

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

scientific article

Respiratory and sleep disorders in mucopolysaccharidosis

scientific article

Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.

scientific article

Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits

scientific article

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.

scientific article published on 7 March 2018

S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome

scientific article published on 01 February 2004

S100B protein and amniotic fluid

scientific article published on 01 September 2003

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies ⬇️

scientific article published on November 24, 2012

Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial

scientific article published on 16 July 2020

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

scientific article published on 28 March 2019

Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology

scientific article published on 28 August 2015

Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested

article

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil

scientific article published on 24 May 2016

Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study

scientific article published on February 1, 1992

Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

scientific article published on 01 March 2003

Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects

scientific article published on 23 April 2013

Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience

scientific article published in November 2008

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism ⬇️

scientific article published on 01 August 1997

Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.

scientific article published on 24 May 2016

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

scientific article published on 11 April 2019

Serum S100B levels in patients with neural tube defects

scientific article published on 06 September 2005

Serum S100B protein is increased in fasting rats

scientific article

Services for the prevention and management of genetic disorders and birth defects in developing countries

scientific article published on 01 January 1999

Seven‐year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil ⬇️

scientific article published on January 1, 1991

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

Severity score system for progressive myelopathy: development and validation of a new clinical scale ⬇️

scientific article published on May 10, 2012

Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice

scientific article published on 13 December 2014

Simple and efficient screening of patients with Fabry disease with high resolution melting

scientific article published on 3 January 2018

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

scientific article published on 01 January 1999

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI

scientific article published on 02 June 2011

Some observations on genetic factors in urolithiasis

scientific article published on 01 January 1981

Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis

scientific article published on 01 December 2004

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA

article

Spinal cord issues in adult patients with MPS: transition of care survey

scientific article published on 27 May 2018

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

article

Study of the comprehension of the scientific method by members of a university health research laboratory

scientific article

Study on possible increase in twinning rate at a small village in south Brazil

scientific article

Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment

scientific article published on February 2017

TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil

scientific article published on 14 August 2012

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

scientific article

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros ⬇️

scientific article published on 01 May 2010

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency

scientific article published on 8 June 2011

Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?

scientific article published on February 1, 1992

The Brazilian consensus on the management of Pompe disease.

scientific article published on October 2009

The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil ⬇️

scientific article published on September 6, 2011

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent

scientific article published on 26 May 2015

The Latin-American network of human genetics

scientific article published in January 2004

The March of Dimes Global Network for Maternal and Infant Health: Harnessing the power of experts in lower-income countries to improve the health of women, mothers, newborns and babies

scientific article published on 01 August 2009

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

scientific article published on 9 February 2013

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

scientific article published on 21 February 2006

The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy

scientific article

The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases

scientific article published on 01 January 2010

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) ⬇️

scientific article published on March 14, 2013

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

article

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape

scientific article

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease

scientific article published on 19 July 2019

The natural history of MPS I: global perspectives from the MPS I Registry

scientific article

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

scientific article

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

scientific article

The polymorphism of the serotonin-2A receptor T102C is associated with age.

scientific article published on 31 October 2008

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus ⬇️

scientific article published on October 29, 2011

The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population.

scientific article published on 22 September 2005

The use of LR values to check the best fit of cut-off values in G6PD deficient cases

scientific article published on 19 January 2007

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

scientific article

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

scientific article published on 24 July 2020

Therapies for the bone in mucopolysaccharidoses

scientific article

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

scientific article published on 31 August 2020

Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.

scientific article

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

scientific article published on 01 May 1996

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

scientific article published on 01 April 2005

Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA.

scientific article

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

scientific article

Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration

scientific article published on 18 February 2013

Treatment of brain disease in the mucopolysaccharidoses

scientific article published on 16 October 2017

Treatment of inborn errors of metabolism

scientific article published on 22 August 2008

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

scientific article published on 18 May 2006

Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing

scientific article

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association? ⬇️

scientific article published on August 1, 2012

Understanding the natural history of Gaucher disease

scientific article

Unique frequency of known mutations in Brazilian MPS I patients

scientific article published on 01 January 2000

Universal newborn screening: A roadmap for action

scientific article published on 25 April 2018

Urinary oligosaccharides: a peripheral marker for Sida carpinifolia exposure or poisoning

scientific article published in April 2009

Utility of Rare Disease Registries in Latin America ⬇️

scientific article published on June 25, 2011

Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis

scientific article

Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential.

scientific article published on January 2012

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up

scientific article published in September 2006

Worldwide distribution of common IDUA pathogenic variants

scientific article

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

article

X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil

scientific article published on 6 March 2009

[A schedule for the detection of metabolic disorders in subjects with urolithiasis]

scientific article published on 01 May 1981

[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children]

scientific article published on 01 September 2000

[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy]

scientific article published on 01 September 1995

[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]

scientific article published on 01 October 2005

[Organic aciduria: diagnosis in high-risk Brazilian patients]

scientific article published on 01 September 2001

[Oxalic acid and urinary lithiasis: a study]

scientific article published on 01 July 1980

[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report]

scientific article published on 01 May 2007

[Transient neonatal tyrosinemia: a frequent abnormality]

scientific article published on 01 November 1998

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients

scientific article published on 25 September 2014

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