Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

BACKGROUND: PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation a...

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Detalles Bibliográficos
Autores principales: Luo, Xiaomei, Hu, Jiacheng, Gao, Xueren, Fan, Yanjie, Sun, Yu, Gu, Xuefan, Qiu, Wenjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140494/
https://www.ncbi.nlm.nih.gov/pubmed/32268899
http://dx.doi.org/10.1186/s12881-020-01010-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140494/
https://www.ncbi.nlm.nih.gov/pubmed/32268899
http://dx.doi.org/10.1186/s12881-020-01010-4

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