Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patients are prone to delayed diagnosis and inappropriate...

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Detalles Bibliográficos
Autores principales: Liu, Qin, Yu, Fang, Lu, Huilin, Luo, Jian, Sun, Ting, Yu, Lu, Gan, Shenglian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
4300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9803525/
https://www.ncbi.nlm.nih.gov/pubmed/36595986
http://dx.doi.org/10.1097/MD.0000000000032510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9803525/
https://www.ncbi.nlm.nih.gov/pubmed/36595986
http://dx.doi.org/10.1097/MD.0000000000032510

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