Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

BACKGROUND: Glycogen storage disease (GSD) Ia, caused by mutations in the glucose-6-phosphatase (G6PC) gene, is characterized by hepatomegaly, hypoglycemia, lactic acidosis, dyslipidemia, and hyperuricemia. This study aimed to investigate clinical and molecular features and late complications in Kor...

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Detalles Bibliográficos
Autores principales: Kim, Yoo-Mi, Choi, Jin-Ho, Lee, Beom-Hee, Kim, Gu-Hwan, Kim, Kyung-Mo, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014716/
https://www.ncbi.nlm.nih.gov/pubmed/32046761
http://dx.doi.org/10.1186/s13023-020-1321-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014716/
https://www.ncbi.nlm.nih.gov/pubmed/32046761
http://dx.doi.org/10.1186/s13023-020-1321-0

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