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Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is on...
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| Pubblicato in: | Pediatr Gastroenterol Hepatol Nutr |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4493248/ https://ncbi.nlm.nih.gov/pubmed/26157701 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2015.18.2.138 |
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