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Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene
We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: th...
Gespeichert in:
| Veröffentlicht in: | Case Rep Pediatr |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Hindawi
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7520001/ https://ncbi.nlm.nih.gov/pubmed/33014498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8836534 |
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