title: A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption.
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, Gülhane Military Medical Academy & Medical Faculty, Ankara, Türkiye. faysalgok@yahoo.com
authors.forename: Faysal
authors.initials: F
authors.lastname: Gok
authors.forename: Halil I
authors.initials: HI
authors.lastname: Aydin
authors.forename: Ismail
authors.initials: I
authors.lastname: Kurt
authors.forename: Erdal
authors.initials: E
authors.lastname: Gokcay
authors.forename: Mari
authors.initials: M
authors.lastname: Maeda
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kasahara
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D005690:Galactose / Q000172:deficiency / Q000378:metabolism*; D005947:Glucose / Q000172:deficiency / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D009004:Monosaccharide Transport Proteins; D005947:Glucose; D005690:Galactose