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Items: 1 to 20 of 101

1.

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.

PMID:
22843301
2.

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
3.

[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
4.

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
5.

Molecular basis for glucose-galactose malabsorption.

Wright EM, Turk E, Martin MG.

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

PMID:
12139397
6.

Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y.

J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114.

PMID:
24048166
7.

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.

8.

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.

PMID:
18288487
9.

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.

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
11.
12.

I. Glucose galactose malabsorption.

Wright EM.

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

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.

Nephrolithiasis in a child with glucose-galactose malabsorption.

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

Pediatr Nephrol. 2004 Feb;19(2):244-6.

PMID:
14673631
15.

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.

16.

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.

17.

Interval breath hydrogen test in glucose-galactose malabsorption.

Douwes AC, van Caillie M, Fernandes J, Bijleveld CM, Desjeux JF.

Eur J Pediatr. 1981 Nov;137(3):273-6.

PMID:
7318838
18.

Congenital glucose galactose malabsorption.

Wickramasinghe P, Lamabadusuriya SP, Lalani HA.

Ceylon Med J. 2001 Mar;46(1):26-7. No abstract available.

PMID:
11569998
20.

[Thirty years of research on congenital glucose and galactose malabsorption: from phenotype to genotype].

Desjeux JF, Wright EM.

Bull Acad Natl Med. 1993 Jan;177(1):125-31; discussion 132-5. French.

PMID:
8319109
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