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Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review

RATIONALE: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. PATIENT CONCERNS: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemi...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Zhan, Qian, Lv, Zili, Tang, Qing, Huang, Li, Chen, Xiuqi, Yang, Meixiong, Lan, Liancheng, Shan, Qingwen
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8078372/
https://ncbi.nlm.nih.gov/pubmed/33879691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000025520
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