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Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia
Glycogen storage disease type Ia (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, growth retardation, and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Germline mutations of glucose-6-phosphatase (G6PC) gene have been iden...
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| Publicado no: | Eur J Pediatr |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4289013/ https://ncbi.nlm.nih.gov/pubmed/24980439 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-014-2354-y |
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