2014, Number 6
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Acta Pediatr Mex 2014; 35 (6)
Intractable chronic diarrhea associated with phenotypic diarrhea of infancy (tricho-hepato-enteric syndrome)
Cadena-León JF, Rodríguez-Jurado R
Language: Spanish
References: 6
Page: 483-489
PDF size: 908.82 Kb.
Text Extraction
No abstract
REFERENCES
Russo P. Enteropathies associated with chronic diarrea and malabsorption. En: Russo P, Ruchelli E, Piccoli D (eds). Pathology of pediatric gastrointestinal and liver disease. Capítulo 4. New York: Springer, 2004; pp. 63-99.
Girault D, Goulet O, Le Deist F, Brousse N, Colomb V, Césarini J, et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 1994;125:36-42.
Verloes A, Lombet J, Lambert Y, Hubert A, Deprez M, Fridman V, 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;68:391-395.
Hartley J, Zachos N, Dawood B, Donowitz M, Forman J, Pollett R, et al. Mutations in TTC37 cause trichohepatoenteric syndrome (Phenotypic Diarrhoea of infancy). Gastroenterology 2010;138(7):2388-2398.
Fabre A, Charroux B, Martinez-Vinson C, Rochelaure B, Odul E, Sayar E, et al. SKIV2L mutations cause syndromic diarrea, or tricohepatoenteric syndrome. Am J Hum Genet 2012;90(6):689-692.
Goulet O, Vinson C, Roquelaure B, Brouse N, Bodemer C, Cézard J. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare D 2008;3:1-6.