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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
Stephen, Joshi; Vilboux, Thierry; Haberman, Yael; Pri-Chen, Hadass; Pode-Shakked, Ben; Mazaheri, Sina; Marek-Yagel, Dina; Barel, Ortal; Di Segni, Ayelet; Eyal, Eran; Hout-Siloni, Goni; Lahad, Avishay; Shalem, Tzippora; Rechavi, Gideon; Malicdan, May Christine V; Weiss, Batia; Gahl, William A; Anikster, Yair.
Afiliação
  • Stephen J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Haberman Y; Division of Medical Genomics, Inova Translational Medicine Institute, Fairfax, VA, USA.
  • Pri-Chen H; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Pode-Shakked B; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Mazaheri S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Marek-Yagel D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Barel O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Di Segni A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Eyal E; The Dr Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Hout-Siloni G; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Lahad A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Shalem T; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Rechavi G; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Malicdan MC; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Weiss B; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Gahl WA; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Anikster Y; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
Eur J Hum Genet ; 24(9): 1268-73, 2016 08.
Article em En | MEDLINE | ID: mdl-26883093
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Enteropatias Perdedoras de Proteínas / Splicing de RNA / Mutação de Sentido Incorreto / Diacilglicerol O-Aciltransferase / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Enteropatias Perdedoras de Proteínas / Splicing de RNA / Mutação de Sentido Incorreto / Diacilglicerol O-Aciltransferase / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos