A carregar...

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review

INTRODUCTION: Glycogen storage disease (GSD) type IX, characterized by liver enlargement and elevated aminotransferase levels, is the most frequent type of GSD. The global incidence of GSD type IXa is only about 1/100,000 individuals. Case reports of GSD type IX are rare in China. We present the fir...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Zhu, Qian, Wen, Xiao-Yu, Zhang, Ming-Yuan, Jin, Qing-Long, Niu, Jun-Qi
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6867740/
https://ncbi.nlm.nih.gov/pubmed/31725618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000017775
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!