A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach - Dörre, K.; Olczak, M.; Wada, Y.; Sosicka, P.; Grüneberg, M.; Reunert, J.; Kurlemann, G.; Fiedler, B.; Biskup, S.; Hörtnagel, K.; Rust, S.; Marquardt, T. (Journal of inherited metabolic disease, 2015)
Keywords: Animals; Biochemistry; Child, Preschool; CHO Cells; Congenital Disorders of Glycosylation - genetics; Congenital Disorders of Glycosylation - therapy; Cricetinae; Cricetulus; DNA Mutational Analysis; Dogs; Female; Galactose - therapeutic use; Human Genetics; Humans; Internal Medicine; Madin Darby Canine Kidney Cells; Medicine; Medicine & Public Health; Metabolic Diseases; Monosaccharide Transport Proteins - deficiency; Monosaccharide Transport Proteins - genetics; Original Article; Pediatrics; Phenotype; Transferrin; Serum Transferrin; Galactose; Muscular Hypotonia; Solute Carrier Family