Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and...

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Detalles Bibliográficos
Autores principales: Derks, Terry G. J., Rodriguez-Buritica, David F., Ahmad, Ayesha, de Boer, Foekje, Couce, María L., Grünert, Sarah C., Labrune, Philippe, López Maldonado, Nerea, Fischinger Moura de Souza, Carolina, Riba-Wolman, Rebecca, Rossi, Alessandro, Saavedra, Heather, Gupta, Rupal Naik, Valayannopoulos, Vassili, Mitchell, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621617/
https://www.ncbi.nlm.nih.gov/pubmed/34836082
http://dx.doi.org/10.3390/nu13113828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621617/
https://www.ncbi.nlm.nih.gov/pubmed/34836082
http://dx.doi.org/10.3390/nu13113828

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