Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease
about
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemiaNature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidusA phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studiesMultifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A genealpha-Galactosidase A deficient mice: a model of Fabry diseaseFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseThe alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Frequency of Fabry disease in male and female haemodialysis patients in Spain.Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.Genetic screening of Fabry patients with EcoTILLING and HRM technology.Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.High incidence of later-onset fabry disease revealed by newborn screeningStructure-function relationships in alpha-galactosidase A.Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous malesCharacterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry DiseaseGenotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsFabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.Twenty novel mutations in the alpha-galactosidase A gene causing Fabry diseasePrevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.Newborn screening for lysosomal storage disorders in hungary.Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry diseaseOrgan manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.Early cardiac changes in children with anderson-fabry disease.Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry DiseasePlasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotypeMutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.Fabry disease due to D313Y and novel GLA mutations.Alpha-galactosidase A removes a terminal galactose from alpha-D-galactoside oligomersFabry disease in the Spanish population: observational study with detection of 77 patients.Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
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P2860
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease
description
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1993
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im Dezember 1993 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 1993/12/01)
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vědecký článek publikovaný v roce 1993
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wetenschappelijk artikel (gepubliceerd op 1993/12/01)
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наукова стаття, опублікована в грудні 1993
@uk
مقالة علمية (نشرت في ديسمبر 1993)
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name
Nature and frequency of mutati ...... gene that cause Fabry disease
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Nature and frequency of mutati ...... gene that cause Fabry disease
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Nature and frequency of mutati ...... gene that cause Fabry disease
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type
label
Nature and frequency of mutati ...... gene that cause Fabry disease
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Nature and frequency of mutati ...... gene that cause Fabry disease
@en
Nature and frequency of mutati ...... gene that cause Fabry disease
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prefLabel
Nature and frequency of mutati ...... gene that cause Fabry disease
@ast
Nature and frequency of mutati ...... gene that cause Fabry disease
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Nature and frequency of mutati ...... gene that cause Fabry disease
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P2093
P2860
P3181
P1476
Nature and frequency of mutati ...... gene that cause Fabry disease
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P2093
D J Niehaus
K H Astrin
L A Resnick-Silverman
R J Desnick
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P304
P3181
P407
P577
1993-12-01T00:00:00Z