换一批Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.
第一作者：
Yu,Ding
第一单位：
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.
作者：
医学主题词
儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);糖原贮积病(Glycogen Storage Disease);生长障碍(Growth Disorders);人类(Humans);低血糖症(Hypoglycemia);肝疾病(Liver Diseases);男(雄)性(Male);突变(Mutation);表型(Phenotype);葡糖磷酸变位酶(Phosphoglucomutase);预后(Prognosis)
DOI
10.1515/jpem-2017-0551
PMID
29858906
发布时间
2021-02-13
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