换一批
换一批A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
作者：
主题词
青少年(Adolescent);成年人(Adult);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);横断面研究(Cross-Sectional Studies);酶替代疗法(Enzyme Replacement Therapy);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);德国(Germany);糖原贮积病Ⅱ型(Glycogen Storage Disease Type II);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);中年人(Middle Aged);肌, 骨骼(Muscle, Skeletal);突变(Mutation);青年人(Young Adult);α葡糖苷酶类(alpha-Glucosidases)
DOI
10.1186/1750-1172-7-35
PMID
22676651
发布时间
2022-04-09
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