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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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumUnexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function.Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry DiseaseEndomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry diseaseA classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case reportCryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.FabryScan: a screening tool for early detection of Fabry disease.Update on role of agalsidase alfa in management of Fabry disease.Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.Fabry disease and early strokeEfficient uptake of recombinant α-galactosidase A produced with a gene-manipulated yeast by Fabry mice kidneysIncreased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Public support for neonatal screening for Pompe disease, a broad-phenotype condition.Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry diseaseFabry 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 mutationsThe Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsImbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells.A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutationNewborn screening for lysosomal storage disorders in hungary.Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.Cost-effectiveness of enzyme replacement therapy for Fabry diseaseNovel GLA Deletion in a Cypriot Female Presenting with Cornea VerticillataOrgan manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.Analysis of lyso-globotriaosylsphingosine in dried blood spots.Enzymatic Screening and Diagnosis of Lysosomal Storage DiseasesEffects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryFrequency of de novo mutations in Japanese patients with Fabry disease.Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutationFabry disease: a review of current management strategies.Pharmacological small molecules for the treatment of lysosomal storage disorders.Newborn screening for lysosomal storage disorders.Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.
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P2860
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Newborn screening for Fabry di ...... on c.936+919G>A (IVS4+919G>A).
@ast
Newborn screening for Fabry di ...... on c.936+919G>A (IVS4+919G>A).
@en
Newborn screening for Fabry di ...... nset GLA mutation c.936+919G>A
@nl
type
label
Newborn screening for Fabry di ...... on c.936+919G>A (IVS4+919G>A).
@ast
Newborn screening for Fabry di ...... on c.936+919G>A (IVS4+919G>A).
@en
Newborn screening for Fabry di ...... nset GLA mutation c.936+919G>A
@nl
prefLabel
Newborn screening for Fabry di ...... on c.936+919G>A (IVS4+919G>A).
@ast
Newborn screening for Fabry di ...... on c.936+919G>A (IVS4+919G>A).
@en
Newborn screening for Fabry di ...... nset GLA mutation c.936+919G>A
@nl
P2093
P2860
P50
P356
P1433
P1476
Newborn screening for Fabry di ...... ion c.936+919G>A (IVS4+919G>A)
@en
P2093
Ai-Chu Huang
Hui-Ying Yeh
Li-Wen Hsu
May-Chin Chao
Robert J Desnick
Shio-Jean Lin
Shu-Chuan Chiang
Teruo Kitagawa
P2860
P304
P356
10.1002/HUMU.21074
P577
2009-10-01T00:00:00Z