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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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Detalles Bibliográficos
Autores principales:	Zhan, Qian, Lv, Zili, Tang, Qing, Huang, Li, Chen, Xiuqi, Yang, Meixiong, Lan, Liancheng, Shan, Qingwen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	5100
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078372/ https://www.ncbi.nlm.nih.gov/pubmed/33879691 http://dx.doi.org/10.1097/MD.0000000000025520

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