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Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

Glycogen storage disease Ia (GSD Ia), also known as von Gierke disease, is caused by pathogenic variants in the G6PC1 gene (OMIM 232200) which encodes glucose‐6‐phosphatase. Deficiency of glucose‐6‐phosphatase impairs the processes of gluconeogenesis and glycogenolysis by preventing conversion of gl...

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Detalles Bibliográficos
Autores principales: Jackson, David G., Koch, Rebecca L., Pendyal, Surekha, Benjamin, Robert, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494510/
https://www.ncbi.nlm.nih.gov/pubmed/37701330
http://dx.doi.org/10.1002/jmd2.12381