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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 30, 2023. (Total: 217422Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Glycogen Storage Disease Type II and GAA[original query]
Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
Journal of inherited metabolic disease 2008 Dec 31 Suppl 2 S261-5.
Joshi P R, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Journal of neurology 2008 Jun 255 (6): 831-8.
Wan L, Lee C-C, Hsu C-M, Hwu W-L, Yang C-C, Tsai C-H, Tsai F
Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.
Journal of neuromuscular diseases 2018 9 5 (4): 471-480.
Remiche Gauthier, Lukacs Zoltan, Kasper David C, Abramowicz Marc, Pandolfo Massi
GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.
Aging 2020 3 12 (5): 4268-4282.
Jia Xiaodong, Shao Libin, Liu Chengcheng, Chen Tuanzhi, Peng Ling, Cao Yinguang, Zhang Chuanchen, Yang Xiafeng, Zhang Guifeng, Gao Jianlu, Fan Guangyi, Gu Mingliang, Du Hongli, Xia Zhangyo
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