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Glycogen storage disease type 1a in the Ohio Amish

Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with...

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Detalles Bibliográficos
Autores principales:	Scott, Ethan M., Wenger, Olivia K., Robinson, Elizabeth, Colling, Kristina, Brown, Miraides F., Hershberger, Jennifer, Radhakrishnan, Kadakkal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458600/ https://www.ncbi.nlm.nih.gov/pubmed/36101819 http://dx.doi.org/10.1002/jmd2.12310

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