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ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Vilarinho, Sílvia; Sari, Sinan; Mazzacuva, Francesca; Bilgüvar, Kaya; Esendagli-Yilmaz, Güldal; Jain, Dhanpat; Akyol, Gülen; Dalgiç, Buket; Günel, Murat; Clayton, Peter T; Lifton, Richard P.
Afiliação
  • Vilarinho S; Section of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; silvia.vilarinho@yale.edu rickl@rockefeller.edu.
  • Sari S; Division of Gastroenterology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, TB 06500, Turkey.
  • Mazzacuva F; Center for Translational Omics, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom.
  • Bilgüvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517.
  • Esendagli-Yilmaz G; Department of Pathology, Faculty of Medicine, Gazi University, Ankara, TB 06500, Turkey.
  • Jain D; Section of Digestive Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Department of Pathology, Yale University School of Medicine, New Haven, CT 06517.
  • Akyol G; Department of Pathology, Faculty of Medicine, Gazi University, Ankara, TB 06500, Turkey.
  • Dalgiç B; Division of Gastroenterology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, TB 06500, Turkey.
  • Günel M; Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517; Yale Program in Brain Tumor Research, Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06517.
  • Clayton PT; Center for Translational Omics, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom.
  • Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Howard Hughes Medical Institute, Yal
Proc Natl Acad Sci U S A ; 113(40): 11289-11293, 2016 10 04.
Article em En | MEDLINE | ID: mdl-27647924
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Ataxia / Ácidos e Sais Biliares / Disfunção Cognitiva / Transaminases / Cirrose Hepática Limite: Child / Humans / Infant / Male / Newborn Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Ataxia / Ácidos e Sais Biliares / Disfunção Cognitiva / Transaminases / Cirrose Hepática Limite: Child / Humans / Infant / Male / Newborn Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos