A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption

Journal of Pediatric Gastroenterology and Nutrition

Volumn 40, Issue 4, 2005, Pages 508-511

  Gok, Faysal ^a   Aydin, Halil I ^b   Kurt, Ismail ^b   Gokcay, Erdal ^b   Maeda, Mari ^b   Kasahara, Michihiro ^b  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GENOMIC DNA; GLUCOSE; GLUCOSE TRANSPORTER; SODIUM ION;

ARTICLE; ARTIFICIAL MILK; AUTOSOMAL RECESSIVE DISORDER; BREAST FEEDING; CASE REPORT; CONTROLLED STUDY; DEHYDRATION; DIARRHEA; DNA SEQUENCE; EXON; FEMALE; FLUID THERAPY; GENE; GENE MUTATION; GLUCOSE INTOLERANCE; GLUCOSE TRANSPORT; HUMAN; HUMAN CELL; HYPERNATREMIA; IMMUNOCYTOCHEMISTRY; INFANT NUTRITION; LACTOSE INTOLERANCE; MALABSORPTION; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; SGLT1 GENE; SODIUM TRANSPORT; TURKEY (REPUBLIC);

CARBOHYDRATE METABOLISM, INBORN ERRORS; EXONS; FEMALE; GALACTOSE; GLUCOSE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; MALABSORPTION SYNDROMES; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION, MISSENSE; PEDIGREE;

EID: 16844374689     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MPG.0000153097.73083.A3     Document Type: Article

References (9)

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8. Kasahara M, Maeda M, Hayashi S, et al. A missense mutation in the Na+/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein. Biochim Biophys Acta 2001;1536:141-7.
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