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Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review
RATIONALE: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. PATIENT CONCERNS: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemi...
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| Publicado no: | Medicine (Baltimore) |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8078372/ https://ncbi.nlm.nih.gov/pubmed/33879691 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000025520 |
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