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

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

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http://www.wikidata.org/entity/Q36130925
Innovations in health and demographic surveillance systems to establish the causal impacts of HIV policiesAge 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).Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells.Enzymatic Screening and Diagnosis of Lysosomal Storage DiseasesIdentification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.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 mutationDifficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.Is it Fabry disease?Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation.Fabry disease in children: a federal screening programme in Russia.Metabolic progression to clinical phenotype in classic Fabry disease.Fabry disease. A potential pitfall A family with a novel intronic mutation
P2860

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

Item
http://www.wikidata.org/entity/Q36130925
description
2012 nî lūn-bûn
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2012年論文
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2012年论文
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2012年论文
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