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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
Onderwerpen:
General Article
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items