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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Détails bibliographiques
Publié dans:Hum Mol Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
General Article
Accès en ligne: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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