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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports
BACKGROUND: PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation a...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7140494/ https://ncbi.nlm.nih.gov/pubmed/32268899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01010-4 |
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