Concepedia
Archives of Disease in Childhood · 2013 · 56 citations · 15 references
SD/THE is a rare disease with high morbidity and mortality. Management should be focused on nutrition and immunological defects.
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Long‐term Outcome of Children Receiving Home Parenteral Nutrition: A 20‐year Single‐center Experience in 302 Patients
V. Colomb, M. Dabbas, Pierre Taupin et al. · Journal of Pediatric Gastroenterology and Nutrition · 2007 · 189 citations
SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome
Alexandre Fabre, Bernard Charroux, Christine Martinez‐Vinson et al. · The American Journal of Human Genetics · 2012 · 157 citations · Full text
Genetic Disorder, Pathogenesis, Trichohepatoenteric Syndrome +4
Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
Jane Hartley, Nicholas C. Zachos, Ban B. Dawood et al. · Gastroenterology · 2010 · 151 citations · Full text
Genetic Disorder, Genetics, Pathogenesis +8
Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency
D Girault, Olivier Goulet, Françoise Le Deist et al. · The Journal of Pediatrics · 1994 · 130 citations
Primary Immunodeficiency, Infant Nutrition, Gastroenterology +5
Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
Alain Verloès, Jacques Lombet, Yves Lambert et al. · American Journal of Medical Genetics · 1997 · 103 citations