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Items: 1 to 20 of 112

1.

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.

Uchida N, Sakamoto O, Irie M, Abukawa D, Takeyama J, Kure S, Tsuchiya S.

Tohoku J Exp Med. 2012 May;227(1):69-72.

2.

Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene.

Diekmann L, Pfeiffer K, Naim HY.

BMC Gastroenterol. 2015 Mar 21;15:36. doi: 10.1186/s12876-015-0261-y.

3.

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

Torniainen S, Freddara R, Routi T, Gijsbers C, Catassi C, Höglund P, Savilahti E, Järvelä I.

BMC Gastroenterol. 2009 Jan 22;9:8. doi: 10.1186/1471-230X-9-8.

4.

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I.

Am J Hum Genet. 2006 Feb;78(2):339-44. Epub 2005 Dec 15.

5.

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.

Fazeli W, Kaczmarek S, Kirschstein M, Santer R.

BMC Gastroenterol. 2015 Jul 28;15:90. doi: 10.1186/s12876-015-0316-0.

6.

Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia.

Robayo-Torres CC, Nichols BL.

Nutr Rev. 2007 Feb;65(2):95-8. Review.

PMID:
17345962
7.

Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.

Järvelä I, Enattah NS, Kokkonen J, Varilo T, Savilahti E, Peltonen L.

Am J Hum Genet. 1998 Oct;63(4):1078-85.

8.

Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.

Behrendt M, Keiser M, Hoch M, Naim HY.

Gastroenterology. 2009 Jun;136(7):2295-303. doi: 10.1053/j.gastro.2009.01.041. Epub 2009 Jan 24.

PMID:
19208354
9.

[Congenital lactase deficiency--a more common disease than previously thought?].

Torniainen S, Savilahti E, Järvelä I.

Duodecim. 2009;125(7):766-70. Finnish.

PMID:
19432082
10.

Lactose intolerance and gastrointestinal cow's milk allergy in infants and children - common misconceptions revisited.

Heine RG, AlRefaee F, Bachina P, De Leon JC, Geng L, Gong S, Madrazo JA, Ngamphaiboon J, Ong C, Rogacion JM.

World Allergy Organ J. 2017 Dec 12;10(1):41. doi: 10.1186/s40413-017-0173-0. eCollection 2017. Review.

11.

Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood.

Laaksonen MM, Mikkilä V, Räsänen L, Rontu R, Lehtimäki TJ, Viikari JS, Raitakari OT; Cardiovascular Risk in Young Finns Study Group.

Br J Nutr. 2009 Jul;102(1):8-17. doi: 10.1017/S0007114508184677. Epub 2009 Jan 13.

PMID:
19138442
12.

Lactase Non-persistence and Lactose Intolerance.

Bayless TM, Brown E, Paige DM.

Curr Gastroenterol Rep. 2017 May;19(5):23. doi: 10.1007/s11894-017-0558-9. Review.

PMID:
28421381
13.

Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures.

Obermayer-Pietsch BM, Bonelli CM, Walter DE, Kuhn RJ, Fahrleitner-Pammer A, Berghold A, Goessler W, Stepan V, Dobnig H, Leb G, Renner W.

J Bone Miner Res. 2004 Jan;19(1):42-7.

14.

Congenital lactase deficiency. A clinical study on 16 patients.

Savilahti E, Launiala K, Kuitunen P.

Arch Dis Child. 1983 Apr;58(4):246-52.

15.

Genetic variation and lactose intolerance: detection methods and clinical implications.

Sibley E.

Am J Pharmacogenomics. 2004;4(4):239-45. Review.

PMID:
15287817
16.

Molecular genetics of human lactase deficiencies.

Järvelä I, Torniainen S, Kolho KL.

Ann Med. 2009;41(8):568-75. doi: 10.1080/07853890903121033. Review.

PMID:
19639477
17.

Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia.

Bulhões AC, Goldani HA, Oliveira FS, Matte US, Mazzuca RB, Silveira TR.

Braz J Med Biol Res. 2007 Nov;40(11):1441-6.

18.

The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence.

Khabarova Y, Torniainen S, Savilahti E, Isokoski M, Mattila K, Järvelä I.

Scand J Clin Lab Invest. 2010 Sep;70(5):354-7. doi: 10.3109/00365513.2010.491554.

PMID:
20509822
19.

Effect of C/T -13910 cis-acting regulatory variant on expression and activity of lactase in Indian children and its implication for early genetic screening of adult-type hypolactasia.

Kuchay RA, Thapa BR, Mahmood A, Mahmood S.

Clin Chim Acta. 2011 Oct 9;412(21-22):1924-30. doi: 10.1016/j.cca.2011.06.032. Epub 2011 Jul 6.

PMID:
21763294
20.

Low prevalence of lactase persistence in Neolithic South-West Europe.

Plantinga TS, Alonso S, Izagirre N, Hervella M, Fregel R, van der Meer JW, Netea MG, de la Rúa C.

Eur J Hum Genet. 2012 Jul;20(7):778-82. doi: 10.1038/ejhg.2011.254. Epub 2012 Jan 11. Erratum in: Eur J Hum Genet. 2012 Jul;20(7):810.

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