Côd QR

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta

Background: Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT. To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we performed a retrospective cohort study in our cen...

Disgrifiad llawn

Wedi'i Gadw mewn:
Prif Awduron: Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2024-03-01
Cyfres:Molecular Genetics and Metabolism Reports
Pynciau:
Classic galactosemia
Clinical variant galactosemia
Variant Duarte galactosemia
GALT
Galactose-1-phosphate uridyltransferase
Newborn screening
Mynediad Ar-lein:http://www.sciencedirect.com/science/article/pii/S2214426924000089
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg