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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...
Autores principales: | Kim, Yoo-Mi, Choi, Jin-Ho, Lee, Beom-Hee, Kim, Gu-Hwan, Kim, Kyung-Mo, Yoo, Han-Wook |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
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 |
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