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Volumn 99, Issue 1, 2014, Pages 35-38

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; IMMUNOGLOBULIN A;

EID: 84890553188     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2013-304016     Document Type: Article
Times cited : (49)

References (20)
  • 1
    • 0028200413 scopus 로고
    • Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency
    • Girault D, Goulet O, Le Deist F, et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 1994;125:36-42.
    • (1994) J Pediatr , vol.125 , pp. 36-42
    • Girault, D.1    Goulet, O.2    Le Deist, F.3
  • 2
    • 77952855204 scopus 로고    scopus 로고
    • Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
    • Hartley JL, Zachos NC, Dawood B, et al. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 2010;138:2388-98.
    • (2010) Gastroenterology , vol.138 , pp. 2388-2398
    • Hartley, J.L.1    Zachos, N.C.2    Dawood, B.3
  • 3
    • 79951786877 scopus 로고    scopus 로고
    • Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome
    • Fabre A, Martinez-Vinson C, Roquelaure B, et al. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum Mutat 2011;32:277-81.
    • (2011) Hum Mutat , vol.32 , pp. 277-281
    • Fabre, A.1    Martinez-Vinson, C.2    Roquelaure, B.3
  • 4
    • 84859487192 scopus 로고    scopus 로고
    • SKIV2 L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
    • Fabre A, Charroux B, Martinez-Vinson C, et al. SKIV2 L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet 2012;90:689-92.
    • (2012) Am J Hum Genet , vol.90 , pp. 689-692
    • Fabre, A.1    Charroux, B.2    Martinez-Vinson, C.3
  • 6
    • 0020039098 scopus 로고
    • Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: A new syndrome
    • Stankler L, Lloyd D, Pollitt RJ, et al. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Arch Dis Child 1982;57:212-16.
    • (1982) Arch Dis Child , vol.57 , pp. 212-216
    • Stankler, L.1    Lloyd, D.2    Pollitt, R.J.3
  • 7
    • 0031017335 scopus 로고    scopus 로고
    • Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
    • Verloes A, Lombet J, Lambert Y, et al. Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet 1997;68:391-5.
    • (1997) Am J Med Genet , vol.68 , pp. 391-395
    • Verloes, A.1    Lombet, J.2    Lambert, Y.3
  • 9
    • 0142135945 scopus 로고    scopus 로고
    • Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis
    • Landers MC, Schroeder TL. Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis. Pediatr Dermatol 2003;20:432-5.
    • (2003) Pediatr Dermatol , vol.20 , pp. 432-435
    • Landers, M.C.1    Schroeder, T.L.2
  • 10
    • 1842555187 scopus 로고    scopus 로고
    • "Syndromic diarrhea" may have better outcome than previously reported
    • Barabino AV, Torrente F, Castellano E, et al. "Syndromic diarrhea" may have better outcome than previously reported. J Pediatr 2004;144:553-4.
    • (2004) J Pediatr , vol.144 , pp. 553-554
    • Barabino, A.V.1    Torrente, F.2    Castellano, E.3
  • 12
    • 33847411436 scopus 로고    scopus 로고
    • Tricho-hepato-enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality
    • Dweikat I, Sultan M, Maraqa N, et al. Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. Am J Med Genet A 2007;143:581-3.
    • (2007) Am J Med Genet A , vol.143 , pp. 581-583
    • Dweikat, I.1    Sultan, M.2    Maraqa, N.3
  • 13
    • 67449110360 scopus 로고    scopus 로고
    • Tricho-hepato-enteric syndrome presenting with mild colitis
    • Egritas O, Dalgic B, Onder M. Tricho-hepato-enteric syndrome presenting with mild colitis. Eur J Pediatr 2009;168:933-5.
    • (2009) Eur J Pediatr , vol.168 , pp. 933-935
    • Egritas, O.1    Dalgic, B.2    Onder, M.3
  • 14
    • 84865329623 scopus 로고    scopus 로고
    • Trichohepatoenteric Syndrome: Founder mutation in Asian Indians
    • Kotecha UH, Movva S, Puri RD, et al. Trichohepatoenteric Syndrome: founder mutation in Asian Indians. Mol Syndromol 2012;3:89-93.
    • (2012) Mol Syndromol , vol.3 , pp. 89-93
    • Kotecha, U.H.1    Movva, S.2    Puri, R.D.3
  • 15
    • 33847373725 scopus 로고    scopus 로고
    • Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: Two names for the same disorder
    • Fabre A, André N, Breton A, et al. Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder. Am J Med Genet A 2007;143:584-8.
    • (2007) Am J Med Genet A , vol.143 , pp. 584-588
    • Fabre, A.1    André, N.2    Breton, A.3
  • 16
    • 33847706472 scopus 로고    scopus 로고
    • Long-term outcome of children receiving home parenteral nutrition: A 20-year single-center experience in 302 patients
    • Colomb V, Dabbas-Tyan M, Taupin P, et al. Long-term outcome of children receiving home parenteral nutrition: a 20-year single-center experience in 302 patients. J Pediatr Gastroenterol Nutr 2007;44:347-53.
    • (2007) J Pediatr Gastroenterol Nutr , vol.44 , pp. 347-353
    • Colomb, V.1    Dabbas-Tyan, M.2    Taupin, P.3
  • 17
    • 84860598277 scopus 로고    scopus 로고
    • Context-dependent dual role of SKI8 homologs in mRNA synthesis and turnover
    • Dorcey E, Rodriguez-Villalon A, Salinas P, et al. Context-dependent dual role of SKI8 homologs in mRNA synthesis and turnover. PLoS Genet 2012;8:e1002652.
    • (2012) PLoS Genet , vol.8
    • Dorcey, E.1    Rodriguez-Villalon, A.2    Salinas, P.3
  • 18
    • 79953830081 scopus 로고    scopus 로고
    • Microvillous inclusion disease: How to improve the prognosis of a severe congenital enterocyte disorder
    • Halac U, Lacaille F, Joly F, et al. Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder. J Pediatr Gastroenterol Nutr 2011;52:460-5.
    • (2011) J Pediatr Gastroenterol Nutr , vol.52 , pp. 460-465
    • Halac, U.1    Lacaille, F.2    Joly, F.3
  • 19
    • 79959191969 scopus 로고    scopus 로고
    • Intractable diarrhea with tufting enteropathy: A favorable outcome is possible
    • Lemale J, Coulomb A, Dubern B, et al. Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. J Pediatr Gastroenterol Nutr 2011;52:734-9.
    • (2011) J Pediatr Gastroenterol Nutr , vol.52 , pp. 734-739
    • Lemale, J.1    Coulomb, A.2    Dubern, B.3
  • 20
    • 84863818590 scopus 로고    scopus 로고
    • Linear growth and circulating insulin-like growth factor I in children with tufting enteropathy receiving long-term TPN
    • Soliman AT, Abdel Rahman H, Ali WS, et al. Linear growth and circulating insulin-like growth factor I in children with tufting enteropathy receiving long-term TPN. J Pediatr Gastroenterol Nutr 2012;55:157-9.
    • (2012) J Pediatr Gastroenterol Nutr , vol.55 , pp. 157-159
    • Soliman, A.T.1    Abdel Rahman, H.2    Ali, W.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.