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List of works by Filippo Vairo

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

scientific article published on 20 March 2017

A Case of Early Infantile Pompe Disease with Atypical Manifestation

Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

scientific article published on 22 June 2020

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

scientific article

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease

scientific article published on 13 November 2014

Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe?

scientific article published on 24 April 2014

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

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

scientific article published in February 2015

Clinical and functional consequences of C-terminal variants in MCT8: a case series

scientific article published on 03 November 2020

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

scientific article published on 24 April 2018

Correlation between brain MR spectroscopy and BMB score in type 1 Gaucher disease: Is there any?

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

scientific article published on 24 October 2016

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

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

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

scientific article

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

scientific article

Emerging drugs for the treatment of mucopolysaccharidoses.

scientific article

Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

scientific article published on 21 February 2013

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

scientific article published on 18 December 2012

Enzyme replacement therapy in a patient with type III Gaucher disease: Report of a paradigmatic case

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

scientific article published on July 2015

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

scientific article published on 18 November 2020

Gastrointestinal disorders and miglustat therapy: A case report

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

scientific article published on 09 March 2019

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

scientific article published on 06 October 2012

Human leukocyte antigens and Gaucher disease

scientific article

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

scientific article published on 01 July 2019

Hyperimmunoglobulinemia in pediatric Gaucher patients in Southern Brazil

article

Inflammasome during pregnancy in a Gaucher disease patient

KIR genes and HLA class I ligands in Gaucher disease

scientific article published on 21 December 2012

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

scientific article published on 11 February 2019

Lysosomal diseases: Overview on current diagnosis and treatment

scientific article published on 25 April 2019

Maple syrup urine disease: mechanisms and management

scientific article published on 6 September 2017

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

article

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

scientific article

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

scientific article published on 2 October 2017

Mucopolysaccharidosis Type I

scientific article published on 16 March 2020

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

scientific article

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

scientific article published on 24 October 2017

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

scientific article published on 08 November 2018

Osteopontin: a potential biomarker of Gaucher disease

scientific article published on 01 April 2015

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

scientific article published on 12 April 2017

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

scientific article

Precision Medicine for Lysosomal Disorders

scientific article published on 26 July 2020

Proteasome inhibitor as an adjuvant treatment for Gaucher disease?

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

scientific article

Screening of high-risk Gaucher disease patients using dried blood spots techniques

scientific article published in July 2013

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

scientific article

Taliglucerase alfa to type 1 Gaucher disease: A south Brazilian experience

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 basis of inborn errors of metabolism for neuroradiologists

scientific article

The challenges of organizing an international course in Latin America

scientific article

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

article

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

scientific article published on March 2016

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

scientific article published on 24 July 2020

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