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

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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Autores principales: Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
glycogen storage disease type Ia
dietary treatment
uncooked cornstarch
burden of disease
unmet need
long-term complications
Nutrition. Foods and food supply
TX341-641
Acceso en línea:https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6
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https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6

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