Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling
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منابع مشابه
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abstract in written mode of language, metadiscourse markers are used commonly to help writers in general and academic writers in particular to produce coherent and professional texts. the purpose of the present study was to compare introduction sections of applied linguistics and physics articles regarding their use of interactive and interactional metadiscourse markers based on the model pro...
15 صفحه اولInfantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a rare autosomial recessive disease due to deficiency of lysosomal acid alpha-glucosidase (GAA). The infantile-onset form is the most severe, and most patients present with hypotonia and cardiomyopathy in early infancy. We report on a typical case of Pompe disease in a patient who died at 8 months of age due to aspiratio...
متن کاملEvidence of cardiomyocyte necrosis in glycogen storage disease type II.
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac troponin T and I are likely to be involved. This case report describes a 39-year-old man with no classical risk factors for premature cardiac ...
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15 صفحه اولLate onset glycogen storage disease type II: pitfalls in the diagnosis.
BACKGROUND/AIMS Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency. The infantile form is easier to recognize compared with the milder adult form that may manifest as myopathy without specific clinical characteristics. The aim of this study is to highlight frequent diagnostic errors in adult GSD-II patients. CASE REPORTS We report f...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 1999
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200367