Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)

Newborn screening for Fabry disease in Taiwan Chinese has revealed a high incidence of the late-onset GLA mutation IVS4 + 919G→A (∼1 in 1,500-1,600 males). We studied 94 adults with this mutation [22 men, 72 women; mean age: men 57.8 ± 6.0 (range 42-68), women 39.1 ± 14.1 years (range 19-82)]. Plasm...

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Vydáno v:	Journal of inherited metabolic disease Ročník 33; číslo 5; s. 619 - 624
Hlavní autoři:	Lin, Hsiang-Yu, Huang, Cheng-Hung, Yu, Hsiao-Chi, Chong, Kah-Wai, Hsu, Ju-Hui, Lee, Pi-Chang, Cheng, Kang-Hsiang, Chiang, Chuan-Chi, Ho, Huey-Jane, Lin, Shuan-Pei, Chen, Shih-Jen, Lin, Po-Kang, Niu, Dau-Ming
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Dordrecht Dordrecht : Springer Netherlands 01.10.2010 Springer Netherlands Springer Blackwell Publishing Ltd
Témata:	Adult Aged Aged, 80 and over Albuminuria - enzymology Albuminuria - genetics alpha-Galactosidase - blood alpha-Galactosidase - genetics Asian Continental Ancestry Group - genetics Biochemistry Biological and medical sciences Biomarkers - blood China - ethnology Clinical Enzyme Tests Diagnostic Techniques, Ophthalmological DNA Mutational Analysis Echocardiography Eye Diseases - enzymology Eye Diseases - genetics Fabry Disease - diagnosis Fabry Disease - enzymology Fabry Disease - ethnology Fabry Disease - genetics Female Genetic Predisposition to Disease Human Genetics Humans Hypertrophy, Left Ventricular - enzymology Hypertrophy, Left Ventricular - genetics Internal Medicine Male Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Middle Aged Mutation Original Article Pediatrics Phenotype Taiwan - epidemiology Urinalysis Young Adult Asia China Taiwan Fabry Disease Ocular Manifestation Enzyme Replacement Therapy Left Ventricular Hypertrophy Hypertrophic Cardiomyopathy Human Evaluation Late Asiatic Nutrition Enzyme Hot spot Metabolic diseases Genetic disease Assay Age of onset Chinese Genetics Clinical investigation Diagnosis Mutation
ISSN:	0141-8955, 1573-2665, 1573-2665
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