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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001719/
https://ncbi.nlm.nih.gov/pubmed/31813960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz283
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