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Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell, Bianca E; Whaley, Kaitlin G; Bove, Kevin E; Labilloy, Anatalia; Lombardo, Rachel C; Hopkin, Robert J; Leslie, Nancy D; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Habes, Dalila; Jardel, Claude; Labarthe, François; Lévy, Jonathan; Lombès, Anne; Mehler-Jacob, Claire; Melki, Judith; Menvielle, Laura; Munnich, Arnold; Mussini, Charlotte; Pichard, Samia; Rio, Marlène; Rötig, Agnès; Sissaoui, Samira; Slama, Abdelhamid; Miethke, Alexander G; Schiff, Manuel.
Afiliación
  • Russell BE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Whaley KG; Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Bove KE; Department of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Labilloy A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Lombardo RC; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Leslie ND; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Prada C; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Assouline Z; Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, Necker Hospital, APHP, Paris, France.
  • Barcia G; Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, Necker Hospital, APHP, Paris, France.
  • Bouchereau J; Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, APHP, Paris, France.
  • Chomton M; Department of Pediatric Intensive Care, Robert-Debré Hospital, APHP, Paris, France.
  • Debray D; Department of Pediatric Hepatology, Necker Hospital, APHP, Paris, France.
  • Dorboz I; Robert-Debré Hospital, Inserm U1141, Paris, France.
  • Durand P; Department of Pediatric Intensive Care, Bicêtre Hospital, APHP, Bicêtre, France.
  • Gaignard P; Department of Pharmacy, Bicêtre Hospital, APHP, Bicêtre, France.
  • Habes D; Department of Pediatric Hepatology, Bicêtre Hospital, APHP, Bicêtre, France.
  • Jardel C; Department of Biochemistry, Pitié-Salpétriêre Hospital, APHP, Paris, France.
  • Labarthe F; Reference Center for Inborn Errors of Metabolism, Tours University Hospital, Tours, France.
  • Lévy J; Cytogenetics Department, Robert-Debré Hospital, APHP, Paris, France.
  • Lombès A; Institut Cochin, Inserm U1016, Paris, France.
  • Mehler-Jacob C; Department of Pediatric Neurology, Bicêtre Hospital, APHP, Bicêtre, France.
  • Melki J; Department of Genetics, Bicêtre Hospital, APHP, Bicêtre, France.
  • Menvielle L; Department of Neonatology, Robert-Debré Hospital, APHP, Paris, France.
  • Munnich A; Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, Necker Hospital, APHP, Paris, France.
  • Mussini C; Department of Pathology, Bicêtre Hospital, APHP, Bicêtre, France.
  • Pichard S; Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, APHP, Paris, France.
  • Rio M; Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, Necker Hospital, APHP, Paris, France.
  • Rötig A; Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, Necker Hospital, APHP, Paris, France.
  • Sissaoui S; Institut Imagine, Inserm U1163, Paris, France.
  • Slama A; Department of Pediatrics, Poitiers University Hospital, Poitiers, France.
  • Miethke AG; Biochemistry Department, Bicêtre Hospital, APHP, Bicêtre, France.
  • Schiff M; Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Hepatology ; 70(3): 1066-1070, 2019 09.
Article en En | MEDLINE | ID: mdl-30912852
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Texto completo: 1 Colección: 01-internacional Asunto principal: Encefalopatía Hepática / Fallo Hepático / Predisposición Genética a la Enfermedad / Proteínas Mitocondriales / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Hepatology Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Encefalopatía Hepática / Fallo Hepático / Predisposición Genética a la Enfermedad / Proteínas Mitocondriales / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Hepatology Año: 2019 Tipo del documento: Article