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...

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Bibliografiska uppgifter

Huvudupphov:	Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2024-03-01
Serie:	Molecular Genetics and Metabolism Reports
Ämnen:	Classic galactosemia Clinical variant galactosemia Variant Duarte galactosemia GALT Galactose-1-phosphate uridyltransferase Newborn screening
Länkar:	http://www.sciencedirect.com/science/article/pii/S2214426924000089
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