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List of works by Robert J. Desnick

24 Assay of enzymes of lipid metabolism with colored and fluorescent derivatives of natural lipids

scientific article published on 01 January 1981

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin

scientific article published on 26 October 2020

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

scientific article published on July 2016

A LC–MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen ⬇️

scientific article published on July 6, 2011

A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14

scientific article published on August 1991

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

scientific journal article

A method for the quantitative determination of neutral glycosphingolipids in urine sediment ⬇️

scientific article published in January 1970

A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases

scientific article published on 01 September 1990

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

scientific article

A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans ⬇️

scientific article published on 01 November 1981

A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment

scientific article published on 13 March 2020

A pharmacogenetic versus a clinical algorithm for warfarin dosing

scientific article

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

scientific article

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

scientific article

A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group

scientific article published on 01 August 1992

AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.

scientific article published in February 2004

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

scientific article published on 09 July 2020

AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function

scientific article

AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease

scientific article published on 01 September 2005

Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease

scientific article published on 01 December 1982

Acceptability of chorionic villi sampling for prenatal diagnosis

scientific article

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

scientific article published on 01 October 2006

Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease ⬇️

scientific article published on July 1, 1995

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

scientific article

Acute Intermittent Porphyria in children: A case report and review of the literature

scientific article

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

scientific article published on 19 August 2016

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations

scientific article published on 26 October 2018

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

scientific article published on 12 June 2017

Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide

scientific article published in August 1995

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal

scientific article published on 01 November 1994

Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene

scientific article published on 01 September 2000

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

scientific article

Acute intermittent porphyria: vector optimization for gene therapy

scientific article

Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium

scientific article

Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease

scientific article

Afamelanotide for Erythropoietic Protoporphyria

scientific article published on July 2015

Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms ⬇️

scientific article published on February 10, 1981

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

scientific article published on 18 December 2006

Alpha-L-iduronidase Deficiency in a Cat: A Model of Mucopolysaccharidosis I

scientific article published on November 1, 1979

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

scientific article

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

scientific article

Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells

scientific article

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

scientific article published on 20 June 2013

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium ⬇️

scientific article published on February 7, 1991

An Improved Method for Heterozygote Identification in Feline and Human Mucopolysaccharidosis VI, Arylsulfatase-B Deficiency ⬇️

scientific article published on 01 January 1981

An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1)

scientific article

An allele-specific PCR system for rapid detection and discrimination of the CYP2C19∗4A, ∗4B, and ∗17 alleles: implications for clopidogrel response testing.

scientific article published on 5 September 2013

Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies

scientific article published on 01 April 1993

Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies

scientific article published on January 1982

Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat

scientific article published in November 1981

Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI.

scientific article

Animal models of mucopolysaccharidosis

scientific article published on 01 January 1982

Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties

scientific article published on 01 January 1997

Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI

scientific article published on 01 July 1986

Assays of the heme biosynthetic enzymes. Preface

scientific article published on 01 January 1982

Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis

scientific article

Assignment of the feline alpha-L-iduronidase gene to chromosome D4.

scientific article published on April 1989

Assignment of the gene for acid beta-glucosidase to human chromosome 1

scientific article

Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8

scientific article published on 01 May 1982

Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).

scientific article

Association of professors of human and medical genetics: Summary of the third annual workshop ⬇️

scientific article published on January 23, 1998

Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.

scientific article

Biochemical properties of the tartrate-resistant acid phosphatase activity in Gaucher disease

scientific article published on 01 January 1982

Bone density in Type 1 Gaucher disease

scientific article published in November 1996

Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT

scientific article published on 01 January 1986

CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda

scientific article

CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing

scientific article

CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

scientific article

Carrier Frequency of the Bloom SyndromeblmAshMutation in the Ashkenazi Jewish Population ⬇️

scientific article published on 01 August 1998

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population

scientific article published on 13 February 2002

Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene

scientific article published on December 1996

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization

scientific article published on 01 January 1997

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.

scientific article

Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII

scientific article published on 01 January 1989

Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP

scientific article published on 06 January 2019

Cholesteryl ester storage disease: pathologic changes in an affected fetus

scientific article published on 01 March 1987

Chromosomal localization of the gene for Gaucher disease

scientific article published on 01 January 1982

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

scientific article

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases

scientific article

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria

scientific article published on 14 June 2017

Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups

scientific article published on June 2010

Combined transgenic expression of α-galactosidase and α1,2-fucosyltransferase leads to optimal reduction in the major xenoepitope Galα(1,3)Gal ⬇️

scientific article published on December 23, 1997

Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.

scientific article

Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver

scientific article published on 01 January 1980

Comparison between avian and human prolyl 4-hydroxylases: studies on the holomeric enzymes and their constituent subunits

scientific article published on 01 February 1992

Comparison of enzymatic activity with evidence of engraftment in patients with inborn errors of metabolism receiving allogeneic marrow transplantation

scientific article published on 01 January 1986

Comparison of the tartrate-resistant acid phosphatase in Gaucher's disease and leukemic reticuloendotheliosis

scientific article

Congenital Erythropoietic Porphyria

scientific article

Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes ⬇️

scientific article published on February 25, 2011

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations

scientific article published on 31 August 2018

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation

scientific article

Congenital erythropoietic porphyria: Recent advances

scientific article published on 27 December 2018

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

scientific article

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

scientific article

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

scientific article

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

scientific article published on 01 June 2002

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene

scientific article published on February 1992

Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells

scientific article published on September 1998

Copy Number Variation and Warfarin Dosing: Evaluation of CYP2C9 , VKORC1 , CYP4F2 , GGCX and CALU ⬇️

scientific article published on December 21, 2011

Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer

scientific article published on July 1999

Correction of enzymatic deficiencies by renal transplantation: Fabry's disease

scientific article published on 01 August 1972

Correction of enzymatic deficiencies by renal transplantation: fabry's disease

scientific article published on 01 January 1975

Correction of the Biochemical and Functional Deficits in Fabry Mice Following AAV8-mediated Hepatic Expression of α-galactosidase A

Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A.

scientific article

Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease

scientific article published in May 2002

Correction to: Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management

scientific article published on 10 December 2020

Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria

scientific article published in October 1987

Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families

scientific article published on 5 March 2004

Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex

scientific article published on 01 June 1994

Cystic fibrosis carrier screening: issues in implementation

scientific article published on 01 November 2002

Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology

scientific article published on 01 September 2004

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

scientific article published on September 2004

Cystic fibrosis population carrier screening: here at last--are we ready?

scientific article published on 01 March 2001

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

scientific article

Delta-aminolevulinic acid dehydratase polymorphism: influence on lead levels and kidney function in humans

scientific article published on 01 March 1997

Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments

scientific article published in PLoS ONE

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

scientific article published in March 2005

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

scientific article published on 29 March 2011

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

scientific article published in February 2010

Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.

scientific article

Determination of delta-aminolevulinate dehydratase activity by a specific fluorometric coupled-enzyme assay

scientific article published on 01 May 1983

Dexamethasone-Mediated Up-Regulation of the Mannose Receptor Improves the Delivery of Recombinant Glucocerebrosidase to Gaucher Macrophages ⬇️

scientific article published on November 10, 2003

Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis ⬇️

scientific article published on 01 April 1971

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

scientific article published on 10 October 2013

Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease

scientific article published on January 1, 1976

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

scientific article published on 14 May 2011

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

scientific article published on 09 September 2020

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22

scientific article

Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI

scientific article published on 01 February 1985

Diversity of Cystic Fibrosis Mutation-Screening Practices ⬇️

scientific article published on May 1, 1998

Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis?

scientific article published on 01 February 2006

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

scientific article published on 12 September 2019

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

scientific article

Effect of theδ-Aminolevulinate Dehydratase Polymorphism on the Accumulation of Lead in Bone and Blood in Lead Smelter Workers ⬇️

scientific article published on April 1, 1998

Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease

scientific article

Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissues

scientific article published on 01 August 1980

Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association

scientific article published on February 1982

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges ⬇️

scientific article published on January 1, 2012

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism ⬇️

scientific article published on September 4, 1970

Enzyme Therapy. V. In Vivo Fate of Erythrocyte-entrapped β-Glucuronidase in β-Glucuronidase-deficient mice ⬇️

scientific article published on 01 December 1975

Enzyme replacement and beyond

scientific article

Enzyme replacement and enhancement therapies for lysosomal diseases

scientific article published on January 2004

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

scientific article

Enzyme replacement in genetic disease. Prospectus

scientific article

Enzyme replacement therapy for Fabry disease, an inherited nephropathy

scientific article

Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval

scientific article published in July 2004

Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease

scientific article published on 11 December 2014

Enzyme therapy XIV. Comparison of methods for enzyme entrapment in human erythrocytes

scientific article published on 01 August 1980

Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease

scientific article published on 01 January 1980

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes ⬇️

scientific article published on October 1, 1979

Enzyme therapy in Fabry's disease by renal transplantation

scientific article published on 01 January 1972

Enzyme therapy in genetic diseases. Preface

scientific article published on 01 March 1973

Enzyme therapy. X. Immune response induced by enzyme- and buffer-loaded liposomes in C3H/HeJ Gus(h) mice ⬇️

scientific article published on March 1, 1979

Enzyme transplantation in Fabry's disease

scientific article published on 01 December 1972

Erythropoietic Protoporphyria, Autosomal Recessive ⬇️

scientific article published on September 7, 2017

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria

scientific article published on 14 September 2019

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria

scientific article published on 06 November 2019

Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study

scientific article

Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy.

scientific article

Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity

scientific article published on 23 May 2016

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases ⬇️

scientific article published on November 1, 2010

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

scientific article

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases

scientific article

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3

scientific article published on 25 April 2013

Fabry Disease (α-Galactosidase A Deficiency): Renal Involvement and Enzyme Replacement Therapy ⬇️

scientific article published on January 1, 2001

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

scientific article

Fabry Disease: An Unusual Cause of Severe Coronary Disease in a Young Man

scientific article published on August 1, 1992

Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations ⬇️

scientific article published on July 18, 2012

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

scientific article published on 12 January 2018

Fabry disease in childhood

scientific article published on May 2004

Fabry disease revisited: Management and treatment recommendations for adult patients

scientific article published on 28 February 2018

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

scientific article

Fabry disease. A case report

scientific article published on 01 March 2005

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

scientific article published on 01 May 2002

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

scientific article published on 01 November 2003

Fabry disease: Diagnosis by α-galactosidase activities in tears ⬇️

scientific article published on August 18, 1975

Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1 ⬇️

scientific article published on August 22, 1997

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

scientific article published on 23 August 2017

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

scientific article published on 01 December 2003

Fabry disease: clinical features and recent advances in enzyme replacement therapy

scientific article published on January 1, 2001

Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy

scientific article published on 01 January 2006

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

Fabry disease: correction of the enzymatic deficiency by renal transplantation

scientific article

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification

scientific article published on 01 January 1993

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

scientific article published on 01 September 2003

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

scientific article published on 01 January 1996

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

scientific article

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A

scientific article

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes

scientific article published on 01 January 1987

Fabry disease: molecular genetics of the inherited nephropathy

scientific article

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation

scientific article

Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male

scientific article published on 01 April 2005

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

scientific article

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

scientific article

Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications

scientific article

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes

scientific article published in March 2004

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

scientific article published on 27 December 2014

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

scientific article

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

scientific article

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

scientific article

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

scientific article

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

scientific article published on 01 October 1994

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

scientific article published on 01 July 2000

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

scientific article published on 01 February 1973

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews

scientific article published on 01 July 2002

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

scientific article

Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1

scientific article published on October 1, 1992

Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation

scientific article

Feline models of mucopolysaccharidosis

scientific article published on 01 January 1980

Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.

scientific article

First-trimester prenatal diagnosis of Tay-Sachs disease ⬇️

scientific article published on November 1, 1984

Fluorescence-Based Selection of Retrovirally Transduced Cells in the Absence of a Marker Gene: Direct Selection of Transduced Type B Niemann-Pick Disease Cells and Evidence for Bystander Correction ⬇️

scientific article published on August 1, 1995

Fluorometric coupled-enzyme assay for delta-aminolevulinate synthase

scientific article published on 01 January 1982

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

scientific article published on 20 December 2017

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

scientific article

Frequency of reactivation and variability in expression of X-linked enzyme loci

scientific article

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

scientific article published on 29 July 2013

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke

scientific article

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

scientific article published in January 2018

Future perspectives for Tay-Sachs disease

scientific article

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy

scientific article

Gaucher disease in the dog

scientific article published on 01 January 1982

Gaucher disease: a century of delineation and understanding

scientific article published on January 1982

Gaucher disease: a membranous enzymopathy.

scientific article published on January 1982

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

scientific article

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

scientific article

Gaucher disease: when molecular testing and clinical presentation disagree ‐the novel c.1226A>G(p.N370S)‐‐RecNcil allele ⬇️

scientific article published on March 23, 2011

Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis

scientific article published on 01 January 1982

Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate

scientific article published on 01 September 1982

Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy

scientific article published on 01 November 1986

Gene symbol: HMBS. Disease: Acute intermittent porphyria

scientific article published in March 2004

Gene therapy for genetic diseases

article

Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

scientific article published on July 1985

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland

scientific article

Genetic heterogeneity in type I Gaucher disease

scientific article published on 01 January 1982

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III ⬇️

scientific article published on October 1, 2003

Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

scientific article published on 01 August 1995

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

scientific article published on 05 June 2013

Genetics of GNE myopathy in the non-Jewish Persian population

scientific article

Genetics of peanut allergy: a twin study

scientific article

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

scientific article

Genomic Structure, Chromosomal Localization, and Expression of Human Cathepsin W ⬇️

scientific article published on July 20, 1998

Genomics and personalized medicine: a perspective

scientific article published on 01 March 2009

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

scientific article published in December 2002

Glutamate dehydrogenase deficiency in three patients with spinocerebellar ataxia: a new enzymatic defect?

scientific article published on 01 January 1979

Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome

scientific article published on April 1980

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

scientific article published on May 1985

Growth restriction in children with type B Niemann-Pick disease

scientific article published in April 2003

HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populations.

scientific article published in September 1997

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R ⬇️

scientific article published on November 20, 2010

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

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scientific article published on 18 July 2020

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Hexosaminidase A Deficiency

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High incidence of later-onset fabry disease revealed by newborn screening

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High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease

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scientific article published on 01 September 1987

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs ⬇️

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Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms

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Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release

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Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs

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Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization

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Human mannosidosis: in vitro and in vivo studies of cofactor supplementation

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Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression

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Human α‐galactosidase A: High plasma activity expressed by the ‐30G→A allele ⬇️

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Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

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Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients ⬇️

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Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease

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Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

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Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms

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Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness ⬇️

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Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease

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Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

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Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

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Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population ⬇️

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Immunologic aspects of enzyme replacement therapy. An evaluation of the immune response to unentrapped, erythrocyte- and liposome-entrapped enzyme in C3H/HeJ Gush mice

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Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

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In utero diagnosis of Sandhoff's disease

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Increasing Tamoxifen Dose in Breast Cancer Patients Based on CYP2D6 Genotypes and Endoxifen Levels: Effect on Active Metabolite Isomers and the Antiestrogenic Activity Score ⬇️

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Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

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Inherited metabolic diseases: advances in delineation, diagnosis, and treatment

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Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family

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Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai

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Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection

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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

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Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease

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Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease ⬇️

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Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts

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JCL Roundtable: enzyme replacement therapy for lipid storage disorders

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Kümmell disease: delayed collapse of the traumatised spine in a patient with Gaucher type 1 disease

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Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome

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Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes

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Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A

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Light- and electron-microscopic histochemistry of Fabry's disease

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Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping ⬇️

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Lipid abnormalities in children with types A and B Niemann Pick disease

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Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

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Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23

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Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.

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Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

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Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of

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Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts

scientific article published on 01 January 1988

Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria

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Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect

scientific article published in February 2000

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

scientific article published on December 1, 1976

Metachromatic leukodystrophy without arylsulfatase A deficiency

scientific article published on October 1, 1979

Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease

scientific article published on 01 July 1999

Microautoradiographic study on the tissue localization of liposome-entrapped or unentrapped 3H-labeled beta-galactosidase injected into rats

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Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria ⬇️

scientific article published on March 5, 2013

Molecular Genetics of Congenital Erythropoietic Porphyria ⬇️

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Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

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Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene

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Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.

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Molecular characterization of phenylketonuria in South Brazil

scientific article published in May 2003

Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning

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Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease

scholarly article

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

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Molecular prenatal diagnosis of glycogen storage disease type Ia

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Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice

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Morbidity and mortality in type B Niemann–Pick disease ⬇️

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Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X) ⬇️

scientific article published on December 1, 1997

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families

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Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat

scientific article published on August 15, 1979

Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities

scientific article published on January 1988

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients

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Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation

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Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity

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Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog.

scientific article published in June 1991

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification

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Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation ⬇️

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Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes.

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Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family

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Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies

scientific article published on 18 January 2019

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

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Mutational mosaicism and genetic counseling in retinoblastoma ⬇️

scientific article published on January 1, 1979

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

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Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

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Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials

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Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

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Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

scientific article published on 01 June 1989

Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

scientific article

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

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Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

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Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant

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Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

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Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

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Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews

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Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin ⬇️

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Nucleotide sequence of the human alpha-galactosidase A gene

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Ocular manifestations of Niemann-Pick disease type B.

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Oculomotor abnormalities in chronic GM2 gangliosidosis.

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Parkinson's disease prevalence in Fabry disease: A survey study

scientific article published on 9 November 2017

Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors

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Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis ⬇️

scientific article published on April 1, 1998

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria

scientific article published on 01 February 2019

Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing

scientific article published on 12 November 2020

Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21.

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Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias

scientific article published on 19 October 2015

Porphobilinogen deaminase: methods and principles of the enzymatic assay

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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations

scientific article published on 28 November 2018

Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management

scientific article published on 07 October 2020

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

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Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population

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Prenatal Genetic Carrier Testing Using Triple Disease Screening ⬇️

scientific article published on October 15, 1997

Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19 ⬇️

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Prenatal diagnosis and outcome of mosaicism for ade novo unbalanced translocation identified in amniocytes ⬇️

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Prenatal diagnosis of Fabry disease

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Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin ⬇️

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Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements

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Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33

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Prenatal genetic screening in the Ashkenazi Jewish population

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Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G

scientific article published on 01 February 1999

Prolonged postpartum proteinuria after early preeclampsia

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Pulmonary involvement in Fabry disease

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Purification and characterization of human alpha-galactosidase isozymes: comparison of tissue and plasma forms and evaluation of purification methods

scientific article published on 01 January 1980

Purification and properties of feline and human arylsulfatase B isozymes. Evidence for feline homodimeric and human monomeric structures.

scientific article published on November 1982

Purification and properties of human hepatic aspartylglucosaminidase

scientific article published on 01 September 1983

Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates

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Purification and properties of uroporphyrinogen III synthase from human erythrocytes

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Purification, characterization, and biosynthesis of human acid ceramidase

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Quality assurance in molecular genetic testing laboratories

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Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS).

scientific article

Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit

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RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice

scientific article

Rapid determination of δ-aminolevulinate synthase activity by a specific fluorometric coupled enzyme assay ⬇️

scientific article published on May 1, 1981

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases

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Recent advances in Fabry's disease

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Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes

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Recommendations for the diagnosis and treatment of the acute porphyrias

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Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4

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Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

scientific article published on 01 May 1991

Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1

scientific article published on 01 January 1982

Regional assignment of the structural gene for human alpha-L-iduronidase

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Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter

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Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy

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Relief of pain of Fabry's disease by diphenylhydantoin ⬇️

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Renal transplantation in Type II Gaucher disease

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Reply (to LTE HEP-17-1594).

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Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy

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Response to "Letter to the Editor by Drs Block and Razani"

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Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer

scientific article published on April 1990

Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria

scientific article published on 31 July 2019

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells ⬇️

scientific article published on April 15, 1992

Risk factors associated with transcervical CVS losses

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Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

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Rsalpolymorphism in the human §-aminolevulinate dehydratase gene at 9q34 ⬇️

scientific article published on August 11, 1991

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

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Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency

scientific article published on January 1990

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

scientific article

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance

scientific article published on 27 August 2015

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

scientific article published on October 2011

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation

scientific article published on 19 November 2014

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

scientific article published on 14 December 2013

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

scientific article published on 20 March 2020

Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria

scientific article published on 07 January 2019

Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria

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Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) ⬇️

scientific article published on February 1, 1992

Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene ⬇️

scientific article published on May 1, 1991

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

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Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease.

scientific article published in January 1982

Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease

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Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop

scientific article published in January 2000

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

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Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

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Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity

scientific article published on 01 January 1984

Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry

scientific article published on 18 November 2010

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide

scientific article published on 16 September 2011

Tay-Sachs disease prevention in Minnesota. Role of physician advocacy in carrier screening

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Tay-Sachs disease: from clinical description to molecular defect.

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Tay-Sachs disease: prospects for therapeutic intervention

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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

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The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.

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The IBD1 locus for susceptibility to Crohn's disease has a greater impact in Ashkenazi Jews with early onset disease

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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

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The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes

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The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

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The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A.

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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

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The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

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The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

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The liver in inherited metabolic diseases of childhood

scientific article published on January 1972

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria

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The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study

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The pathology of the feline model of mucopolysaccharidosis I

scientific article published in July 1983

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

scientific article

The porphyrias: advances in diagnosis and treatment

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The porphyrias: advances in diagnosis and treatment

scientific article published on 12 July 2012

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities

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

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Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin

scientific article published on December 1, 1992

Treatment of Fabry's disease: correction of the enzymatic deficiency by renal transplantation

scientific article published on December 1, 1971

Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation

scientific article

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

scientific article

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

scientific article published in December 2005

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation

scientific article published on 01 June 1999

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes

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Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

scientific article published on 01 January 1993

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

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Types A and B Niemann-Pick disease

scientific article published on 16 December 2016

Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease)

scientific article published on 01 January 1982

Urinary Screening of Globoid-Cell Leukodystrophy ⬇️

scientific article published on July 22, 1971

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

scientific article

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions

scientific article

Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene

scientific article published on January 2000

Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase

scientific article published on 01 January 1985

Use of complementary and alternative medicine by patients with lysosomal storage diseases

scientific article published in October 2009

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

scientific article

Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects

scientific article published on 12 September 2013

Workshop on inborn errors of metabolism

scientific article published on 01 January 1982

[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]

scientific article published on 01 May 1990

delta-Aminolevulinate dehydratase: induced expression and regional assignment of the human gene to chromosome 9q13----qter

scientific article published in January 1985

delta-Aminolevulinic acid dehydratase isozymes and lead toxicity

scientific article published on 01 January 1987

α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease

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