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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Detalles Bibliográficos
Autores principales: Kim, Jung Ah, Kim, Ja Hye, Lee, Beom Hee, Kim, Gu-Hwan, Shin, Yoon S., Yoo, Han-Wook, Kim, Kyung Mo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493248/
https://www.ncbi.nlm.nih.gov/pubmed/26157701
http://dx.doi.org/10.5223/pghn.2015.18.2.138

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493248/
https://www.ncbi.nlm.nih.gov/pubmed/26157701
http://dx.doi.org/10.5223/pghn.2015.18.2.138

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