Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2

BACKGROUND: Glycogen synthase deficiency (glycogen storage disease 0 — GSD 0) caused by mutations in the GYS2 gene is characterized by a lack of glycogen synthesis in the liver. It is a rare condition of disturbed glycogen homeostasis in the liver with less than 30 cases reported in the literature s...

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Detalles Bibliográficos
Autores principales: Szymańska, Edyta, Rokicki, Dariusz, Wątrobinska, Urszula, Ciara, Elżbieta, Halat, Paulina, Płoski, Rafał, Tylki-Szymańka, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750574/
https://www.ncbi.nlm.nih.gov/pubmed/26937415
http://dx.doi.org/10.1016/j.ymgmr.2015.07.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750574/
https://www.ncbi.nlm.nih.gov/pubmed/26937415
http://dx.doi.org/10.1016/j.ymgmr.2015.07.003

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