Galactosemia: When is it a newborn screening emergency?Contents lists available at SciVerse ScienceDirect Molecular Genetics and Metabolism j ourna l homepage: www.e lsev

Original Article Abstract Aim: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is ga- lactose-1-phosphate-uridylytransferase,

68 *Correspondence Dr Rajagopal Kishore Kumar Consultant Neonatologist and Pediatrician Cloudnine Hospital 3rd Block, Jayanagar Bangalore 560011, Karnataka India E-mail:

Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells Verena Janes 1,†, Simona

Thitima.pmdAsian Biomedicine Vol. 9 No. 1 February 2015; 95 - 100 Classical galactosemia in a Thai infant: case report and review of the literature Thitima Ngoenmaka, Julintorn

MCN0118_GALT_00158_Dharam.inddYA Y M ed ia AS Abstract Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments Muhittin Çelik1, Nezir Özgün2,