Wordt geladen...

Sweet and sour: an update on classic galactosemia

Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:J Inherit Metab Dis
Hoofdauteurs: Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Netherlands 2017
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5391384/
https://ncbi.nlm.nih.gov/pubmed/28281081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0029-3
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!