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A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia
Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Sciendo
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454238/ https://www.ncbi.nlm.nih.gov/pubmed/30984526 http://dx.doi.org/10.2478/bjmg-2018-0018 |