A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption.
Gok
Faysal
F
Department of Pediatrics, Division of Pediatric Nephrology, Gülhane Military Medical Academy & Medical Faculty, Ankara, Türkiye. faysalgok@yahoo.com
Aydin
Halil I
HI
Kurt
Ismail
I
Gokcay
Erdal
E
Maeda
Mari
M
Kasahara
Michihiro
M
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
D009004:Monosaccharide Transport Proteins; D005947:Glucose; D005690:Galactose