Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia | Orphanet Journal of Rare Diseases | Full Text

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia | Orphanet Journal of Rare Diseases | Full Text

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

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 ...

Authors:Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim and Han-Wook Yoo

Citation:Orphanet Journal of Rare Diseases 2020 15:45

Content type:Research

Published on: 11 February 2020

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