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Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begona; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A; Perveen, Rahat; Preece, Mary A; Rogers, Yvonne; Treacy, Eileen P; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W; Robinson, Ian; Rodríguez-Pombo, Pilar; Olpin, Simon E; Banka, Siddharth.
Afiliação
  • Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Colombo R; Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
  • Urquhart J; Policlinico Agostino Gemelli, Rome, Italy.
  • Morais A; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
  • Merinero B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Oyarzabal A; Centro de Diagnostico de Enfermedades Moleculares, Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Centro de Investigacion Biomedica en Red de Enfermedades Raras, Universidad Autonoma de Madrid, Spain.
  • Pérez B; Centro de Diagnostico de Enfermedades Moleculares, Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Centro de Investigacion Biomedica en Red de Enfermedades Raras, Universidad Autonoma de Madrid, Spain.
  • Jones SA; Centro de Diagnostico de Enfermedades Moleculares, Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Centro de Investigacion Biomedica en Red de Enfermedades Raras, Universidad Autonoma de Madrid, Spain.
  • Perveen R; Centro de Diagnostico de Enfermedades Moleculares, Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Centro de Investigacion Biomedica en Red de Enfermedades Raras, Universidad Autonoma de Madrid, Spain.
  • Preece MA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Rogers Y; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Treacy EP; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Mayne P; Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Zampino G; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • MacKinnon S; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Wassmer E; Adult Metabolic Service, Mater Misericordiae University Hospital, Dublin, Ireland.
  • Yue WW; Department of Biochemistry, Temple Street Children's University Hospital, Dublin, Ireland.
  • Robinson I; Department of Paediatrics, Catholic University of the Sacred Heart, and Center for Rare Diseases, Policlinico Agostino Gemelli, Rome, Italy.
  • Rodríguez-Pombo P; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
  • Olpin SE; Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Banka S; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
J Inherit Metab Dis ; 42(5): 809-817, 2019 09.
Article em En | MEDLINE | ID: mdl-31177572
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas da Gravidez / Encéfalo / Erros Inatos do Metabolismo dos Aminoácidos / Aminoácidos de Cadeia Ramificada / Transaminases / Mitocôndrias Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Irlanda
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas da Gravidez / Encéfalo / Erros Inatos do Metabolismo dos Aminoácidos / Aminoácidos de Cadeia Ramificada / Transaminases / Mitocôndrias Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Irlanda