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...

Descripción completa

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

Internet

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

Ejemplares similares