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Items: 1 to 20 of 104

1.

Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.

Soylu OB, Ecevit C, Altinöz S, Oztürk AA, Temizkan AK, Maeda M, Kasahara M.

Eur J Pediatr. 2008 Dec;167(12):1395-8. doi: 10.1007/s00431-008-0681-6. Epub 2008 Feb 21.

PMID:
18288487
2.

Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis.

El-Naggar W, Balfe JW, Barbar M, Taha D.

Pediatr Nephrol. 2005 Sep;20(9):1336-9. Epub 2005 Jul 12.

PMID:
16010597
3.

Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.

Vallaeys L, Van Biervliet S, De Bruyn G, Loeys B, Moring AS, Van Deynse E, Cornette L.

Eur J Pediatr. 2013 Mar;172(3):409-11. doi: 10.1007/s00431-012-1802-9. Epub 2012 Jul 29.

PMID:
22843301
4.

Neonatal nephrocalcinosis in association with glucose-galactose malabsorption.

Pahari A, Milla PJ, van't Hoff WG.

Pediatr Nephrol. 2003 Jul;18(7):700-2. Epub 2003 May 7.

PMID:
12734749
5.
6.

D28G mutation in congenital glucose-galactose malabsorption.

Kianifar HR, Talebi S, Talebi S, Tavakkol-Afshari J, Esmaili M, Davachi B, Brook A.

Arch Iran Med. 2007 Oct;10(4):514-8.

7.

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM.

Biochim Biophys Acta. 1999 Feb 24;1453(2):297-303.

8.

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.

Martín MG, Turk E, Lostao MP, Kerner C, Wright EM.

Nat Genet. 1996 Feb;12(2):216-20.

PMID:
8563765
10.

Molecular basis for glucose-galactose malabsorption.

Wright EM, Turk E, Martin MG.

Cell Biochem Biophys. 2002;36(2-3):115-21. Review.

PMID:
12139397
11.

I. Glucose galactose malabsorption.

Wright EM.

Am J Physiol. 1998 Nov;275(5 Pt 1):G879-82. Review.

12.

Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.

Atay FY, Derme T, Uras N, Ceylaner G, Ceylaner S, Sari FN, Oguz SS.

Dig Dis Sci. 2017 Jan;62(1):280-281. doi: 10.1007/s10620-016-4348-2. Epub 2016 Oct 25. No abstract available.

PMID:
27783308
13.

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

Gok F, Aydin HI, Kurt I, Gokcay E, Maeda M, Kasahara M.

J Pediatr Gastroenterol Nutr. 2005 Apr;40(4):508-11. No abstract available.

PMID:
15795603
14.

Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption.

Martín MG, Turk E, Kerner C, Zabel B, Wirth S, Wright EM.

Prenat Diagn. 1996 May;16(5):458-62.

PMID:
8844006
15.

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings.

Aperia A, Bergqvist G, Linné T, Zetterström R.

Acta Paediatr Scand. 1981 Jul;70(4):527-33.

PMID:
6274135
16.

[Glucose-galactose malabsorption. The first reported case in Denmark].

Boisen KA, Hjelt K.

Ugeskr Laeger. 1999 Jun 28;161(26):4008-9. Danish.

PMID:
10402938
17.

Nephrolithiasis in a child with glucose-galactose malabsorption.

Tasic V, Slaveska N, Blau N, Santer R.

Pediatr Nephrol. 2004 Feb;19(2):244-6. Epub 2003 Dec 11.

PMID:
14673631
18.

Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.

Turk E, Zabel B, Mundlos S, Dyer J, Wright EM.

Nature. 1991 Mar 28;350(6316):354-6.

PMID:
2008213
19.

Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.

Xin B, Wang H.

Clin Genet. 2011 Jan;79(1):86-91. doi: 10.1111/j.1399-0004.2010.01440.x.

PMID:
20486940
20.

Structure of the human Na+/glucose cotransporter gene SGLT1.

Turk E, Martín MG, Wright EM.

J Biol Chem. 1994 May 27;269(21):15204-9.

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