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Items: 11

1.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER.

Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20.

2.

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK.

Eur J Pediatr. 2015 Oct;174(10):1405-11. doi: 10.1007/s00431-015-2563-z. Epub 2015 May 15. Review.

PMID:
25976726
3.

Syndromic (phenotypic) diarrhea in early infancy.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP.

Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Review.

4.

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A, Martinez-Vinson C, Goulet O, Badens C.

Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Review.

5.

SLC26A3 mutations in congenital chloride diarrhea.

Mäkelä S, Kere J, Holmberg C, Höglund P.

Hum Mutat. 2002 Dec;20(6):425-38. Review.

PMID:
12442266
6.

Chronic enteropathy: molecular basis.

Ruemmele FM.

Nestle Nutr Workshop Ser Pediatr Program. 2007;59:73-85; discussion 85-8. Review.

PMID:
17245092
7.

Sodium ion transporters as new therapeutic targets in heart failure.

Baartscheer A, van Borren MM.

Cardiovasc Hematol Agents Med Chem. 2008 Oct;6(4):229-36. Review.

PMID:
18855635
8.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
9.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
10.

The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders.

Overeem AW, Posovszky C, Rings EH, Giepmans BN, van IJzendoorn SC.

Dis Model Mech. 2016 Jan;9(1):1-12. doi: 10.1242/dmm.022269. Review.

11.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.

Fabre A, Badens C.

Intractable Rare Dis Res. 2014 Feb;3(1):8-11. doi: 10.5582/irdr.3.8. Review.

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