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Lista de obras de Robert J. Desnick

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

artículo científico publicado el 1 de enero de 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.

artículo científico publicado en 2016

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

artículo científico publicado el 6 de julio de 2011

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

artículo científico publicado en 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 ⬇️

artículo científico publicado en 1970

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

artículo científico publicado en 1990

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de noviembre de 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

artículo científico publicado en 2020

A pharmacogenetic versus a clinical algorithm for warfarin dosing

artículo científico publicado en 2013

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

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease

artículo científico publicado en 1982

Acceptability of chorionic villi sampling for prenatal diagnosis

artículo científico publicado en 1986

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

artículo científico publicado en 2006

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

artículo científico publicado el 1 de julio de 1995

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 1994

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

artículo científico publicado en 2000

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

artículo científico publicado en 2004

Acute intermittent porphyria: vector optimization for gene therapy

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Afamelanotide for Erythropoietic Protoporphyria

artículo científico publicado en 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 ⬇️

artículo científico publicado el 10 de febrero de 1981

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

artículo científico publicado en 2006

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

artículo científico publicado el 1 de noviembre de 1979

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

artículo científico publicado en 1990

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado el 7 de febrero de 1991

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

artículo científico publicado el 1 de enero de 1981

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

artículo científico publicado en 1991

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

artículo científico publicado en 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

artículo científico publicado en 1982

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

artículo científico publicado en 1981

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

artículo científico publicado en 1985

Animal models of mucopolysaccharidosis

scientific article published on 01 January 1982

Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties

artículo científico publicado en 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

artículo científico publicado en 1982

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

artículo científico publicado en 1982

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

artículo científico publicado en 1989

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

artículo científico publicado en 1981

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

artículo científico publicado en 1982

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

artículo científico publicado en 1984

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

artículo científico publicado el 23 de enero de 1998

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

artículo científico publicado en 1984

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

artículo científico publicado en 1996

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

artículo científico publicado en 1986

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado el 1 de agosto de 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

artículo científico publicado en 1996

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

artículo científico publicado en 1997

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

artículo científico publicado en 1999

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

artículo científico publicado en 1989

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

artículo científico publicado en 2019

Cholesteryl ester storage disease: pathologic changes in an affected fetus

artículo científico publicado en 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).

artículo científico publicado en 2015

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

artículo científico publicado en 1981

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado el 23 de diciembre de 1997

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

artículo científico publicado en 2010

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

artículo científico publicado el 1 de febrero de 1992

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

artículo científico publicado en 1986

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

artículo científico publicado en 1981

Congenital Erythropoietic Porphyria

artículo científico publicado en 1993

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

artículo científico publicado el 25 de febrero de 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

artículo científico publicado en 1998

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

artículo científico publicado en 2009

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

artículo científico publicado en 2002

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

artículo científico publicado en 1995

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado el 21 de diciembre de 2011

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

artículo científico publicado en 1999

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

artículo científico publicado el 1 de agosto de 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.

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 1987

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

artículo científico publicado en 2004

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

artículo científico publicado en 1994

Cystic fibrosis carrier screening: issues in implementation

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2002

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

artículo científico publicado en 1997

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 1999

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

artículo científico publicado en 1983

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

artículo científico publicado el 10 de noviembre de 2003

Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis ⬇️

artículo científico publicado el 8 de abril de 1971

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

artículo científico publicado en 2013

Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease

artículo científico publicado el 1 de enero de 1976

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 1999

Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI

artículo científico publicado en 1985

Diversity of Cystic Fibrosis Mutation-Screening Practices ⬇️

artículo científico publicado el 1 de mayo de 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de abril de 1998

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

artículo científico publicado en 2015

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 ⬇️

artículo científico publicado el 1 de enero de 2012

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

artículo científico publicado el 4 de septiembre de 1970

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

artículo científico publicado el 1 de diciembre de 1975

Enzyme replacement and beyond

artículo científico publicado en 2001

Enzyme replacement and enhancement therapies for lysosomal diseases

artículo científico publicado en 2004

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

artículo científico publicado en 2002

Enzyme replacement in genetic disease. Prospectus

artículo científico publicado en 1973

Enzyme replacement therapy for Fabry disease, an inherited nephropathy

artículo científico publicado en 2002

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

artículo científico publicado en 2004

Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease

artículo científico publicado en 2014

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

artículo científico publicado en 1980

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

artículo científico publicado el 1 de enero de 1980

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

artículo científico publicado el 1 de octubre de 1979

Enzyme therapy in Fabry's disease by renal transplantation

artículo científico publicado en 1972

Enzyme therapy in genetic diseases. Preface

artículo científico publicado el 1 de marzo de 1973

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

artículo científico publicado el 1 de marzo de 1979

Enzyme transplantation in Fabry's disease

artículo científico publicado en 1972

Erythropoietic Protoporphyria, Autosomal Recessive ⬇️

artículo científico publicado el 7 de septiembre de 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de noviembre de 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de enero de 2001

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de agosto de 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 ⬇️

artículo científico publicado el 18 de julio de 2012

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

artículo científico publicado en 2018

Fabry disease in childhood

artículo científico publicado en 2004

Fabry disease revisited: Management and treatment recommendations for adult patients

artículo científico publicado en 2018

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

artículo científico publicado en 2003

Fabry disease. A case report

artículo científico publicado en 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 ⬇️

artículo científico publicado el 18 de agosto de 1975

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

artículo científico publicado el 22 de agosto de 1997

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de enero de 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)

artículo científico publicado en 1999

Fabry disease: correction of the enzymatic deficiency by renal transplantation

artículo científico publicado en 1973

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

artículo científico publicado en 1993

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 1985

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes

scientific article published on 01 January 1987

Fabry disease: molecular genetics of the inherited nephropathy

artículo científico publicado en 1989

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

artículo científico publicado en 2003

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 1989

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

artículo científico publicado en 1997

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

artículo científico publicado en 2002

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 1973

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

artículo científico publicado el 1 de octubre de 1992

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

artículo científico publicado en 2010

Feline models of mucopolysaccharidosis

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First-trimester prenatal diagnosis of Tay-Sachs disease ⬇️

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Fluorometric coupled-enzyme assay for delta-aminolevulinate synthase

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

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Genetic heterogeneity in type I Gaucher disease

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

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

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Genetics of GNE myopathy in the non-Jewish Persian population

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Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome

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

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Hexosaminidase A activity and amyotrophic lateral sclerosis

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

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Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

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Homozygous nonsense mutations in TWIST2 cause Setleis syndrome

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Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes

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Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose

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Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites

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Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites

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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 alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms

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Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

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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 arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

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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 delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone

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Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.

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Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites

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

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Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

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

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Human α-galactosidase A: glycosylation site 3 is essential for enzyme solubility ⬇️

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

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Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene

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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 and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

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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 a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online

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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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Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection

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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

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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

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Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

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Metachromatic leukodystrophy without arylsulfatase A deficiency

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

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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 ⬇️

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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

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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 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) ⬇️

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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

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

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

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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

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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 ⬇️

artículo científico publicado el 1 de enero de 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

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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).

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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 ⬇️

artículo científico publicado el 27 de julio de 2011

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

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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 ⬇️

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

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

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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

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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

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Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management

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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 ⬇️

artículo científico publicado el 15 de octubre de 1997

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

artículo científico publicado el 22 de agosto de 1997

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

artículo científico publicado el 1 de agosto de 1998

Prenatal diagnosis of Fabry disease

artículo científico publicado en 2007

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

artículo científico publicado el 31 de diciembre de 1997

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

artículo científico publicado el 1 de enero de 1980

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

artículo científico publicado en 1982

Purification and properties of human hepatic aspartylglucosaminidase

artículo científico publicado en 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

artículo científico publicado en 1987

Purification, characterization, and biosynthesis of human acid ceramidase

artículo científico publicado en 1995

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).

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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

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

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

artículo científico publicado en 2013

Recent advances in Fabry's disease

artículo científico publicado en 1970

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

artículo científico publicado en 2005

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

artículo científico publicado en 1991

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

artículo científico publicado en 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

artículo científico publicado en 1984

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

artículo científico publicado en 1981

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

scientific article published on 01 July 1996

Relief of pain of Fabry's disease by diphenylhydantoin ⬇️

artículo científico publicado el 1 de agosto de 1973

Renal transplantation in Type II Gaucher disease

artículo científico publicado en 1973

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

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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 ⬇️

artículo científico publicado el 15 de abril de 1992

Risk factors associated with transcervical CVS losses

artículo científico publicado en 1992

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

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

artículo científico publicado el 11 de agosto de 1991

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

artículo científico publicado en 2001

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

artículo científico publicado en 1990

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

artículo científico publicado en 1990

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

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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.

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado el 1 de febrero de 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 ⬇️

artículo científico publicado el 1 de mayo de 1991

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

artículo científico publicado en 1988

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

artículo científico publicado en 1982

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

artículo científico publicado en 2010

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

artículo científico publicado en 2000

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

artículo científico publicado en 2007

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

artículo científico publicado en 1987

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

artículo científico publicado en 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

artículo científico publicado en 1986

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

artículo científico publicado en 2001

Tay-Sachs disease: prospects for therapeutic intervention

artículo científico publicado el 1 de enero de 1977

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

scientific article published on 01 April 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 1991

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

artículo científico publicado en 2002

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

artículo científico publicado en 1996

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

artículo científico publicado en 2017

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

artículo científico publicado en 1989

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

artículo científico publicado en 2000

The liver in inherited metabolic diseases of childhood

artículo científico publicado en 1972

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

artículo científico publicado en 1994

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

artículo científico publicado en 2004

The pathology of the feline model of mucopolysaccharidosis I

artículo científico publicado en 1983

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

artículo científico publicado en 2009

The porphyrias: advances in diagnosis and treatment

artículo científico publicado en 2012

The porphyrias: advances in diagnosis and treatment

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de diciembre de 1992

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

artículo científico publicado el 1 de diciembre de 1971

Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation

artículo científico publicado en 2001

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

artículo científico publicado en 1999

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

artículo científico publicado en 2005

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

artículo científico publicado en 1999

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 1993

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

artículo científico publicado en 2005

Types A and B Niemann-Pick disease

artículo científico publicado en 2016

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

artículo científico publicado en 1982

Urinary Screening of Globoid-Cell Leukodystrophy ⬇️

artículo científico publicado el 22 de julio de 1971

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

artículo científico publicado en 2001

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

artículo científico publicado en 2006

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

artículo científico

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

artículo científico publicado en 1985

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 1985

delta-Aminolevulinic acid dehydratase isozymes and lead toxicity

artículo científico publicado en 1987

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

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