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Items: 1 to 20 of 88

1.

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
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.

Molecular basis for glucose-galactose malabsorption.

Wright EM, Turk E, Martin MG.

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

PMID:
12139397
4.

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
5.

SLC5A1 Mutations in Saudi Arabian Patients with Congenital Glucose-Galactose Malabsorption.

Al-Suyufi Y, Al-Saleem K, Al-Mehaidib A, Banemai M, Aldekhail WM, Al-Muhandes A, Mohammed M, Allam R, Jambi A, Ramzan K, Imtiaz F.

J Pediatr Gastroenterol Nutr. 2017 Jul 27. doi: 10.1097/MPG.0000000000001694. [Epub ahead of print]

PMID:
28753187
6.

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
7.

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
8.

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.

10.

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
11.

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.

12.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
13.

[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
14.

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
15.

[Glucose transport hereditary diseases].

Pascual JM.

Med Clin (Barc). 2006 Nov 11;127(18):709-14. Spanish.

PMID:
17169300
16.
17.

Intestinal absorption in health and disease--sugars.

Wright EM, Martín MG, Turk E.

Best Pract Res Clin Gastroenterol. 2003 Dec;17(6):943-56. Review.

PMID:
14642859
18.
19.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
20.

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J.

Hum Genet. 2002 Jan;110(1):21-9. Epub 2001 Nov 17.

PMID:
11810292

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