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Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels

Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by mutations in the G6PC gene, encoding the catalytic subunit of glucose-6-phosphatase. Early symptoms include severe fasting intolerance, failure to thrive and hepatomegaly, biochemically associated with nonketotic hy...

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Detalles Bibliográficos
Autores principales:	Saeed, Ali, Hoogerland, Joanne A, Wessel, Hanna, Heegsma, Janette, Derks, Terry G J, van der Veer, Eveline, Mithieux, Gilles, Rajas, Fabienne, Oosterveer, Maaike H, Faber, Klaas Nico
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	General Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001719/ https://www.ncbi.nlm.nih.gov/pubmed/31813960 http://dx.doi.org/10.1093/hmg/ddz283

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