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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hum Mol Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2020
Schlagworte:
General Article
Online Zugang: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: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge