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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop, Ana; Williams, Monique; Struys, Eduard A; Monné, Magnus; Jansen, Erwin E W; De Grassi, Anna; Kanhai, Warsha A; Scarcia, Pasquale; Ojeda, Matilde R Fernandez; Porcelli, Vito; van Dooren, Silvy J M; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E; Coman, David; Das, Anibh Martin; El-Gharbawy, Areeg; Nuoffer, Jean-Marc; Polic, Branka; Santer, René; Weinhold, Natalie; Zuccarelli, Britton; Palmieri, Ferdinando; Palmieri, Luigi; Salomons, Gajja S.
Afiliação
  • Pop A; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Williams M; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Struys EA; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Monné M; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Jansen EEW; Department of Sciences, University of Basilicata, Potenza, Italy.
  • De Grassi A; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Kanhai WA; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Scarcia P; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Ojeda MRF; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Porcelli V; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • van Dooren SJM; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Lennertz P; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Nota B; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Abdenur JE; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU Medical Center Metabolic Unit PK 1X009, Postbus 7057, 1007 MB, Amsterdam, The Netherlands.
  • Coman D; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA.
  • Das AM; Department of Pediatrics, University of California at Irvine, Irvine, CA, USA.
  • El-Gharbawy A; Department of Metabolic Medicine, Lady Cilento Children's Hospital, Brisbane, Australia.
  • Nuoffer JM; School of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Gold Coast, Australia.
  • Polic B; Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Santer R; Department of Pediatrics and Division of Medical Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Weinhold N; Division of Pediatric Endocrinology, Diabetology and Metabolism and University Institute of Clinical Chemistry, Inselspital, University Hospital, University of Bern, Bern, Switzerland.
  • Zuccarelli B; Department of Pediatrics, PICU, University Hospital Centre, Split, Croatia.
  • Palmieri F; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Palmieri L; Sozialpädiatrisches Zentrum, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Salomons GS; The University of Kansas School of Medicine Salina Campus, Salina, USA.
J Inherit Metab Dis ; 41(2): 169-180, 2018 03.
Article em En | MEDLINE | ID: mdl-29238895
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Cítrico / Encefalopatias Metabólicas Congênitas / Proteínas de Transporte de Ânions / Proteínas Mitocondriais / Glutaratos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Cítrico / Encefalopatias Metabólicas Congênitas / Proteínas de Transporte de Ânions / Proteínas Mitocondriais / Glutaratos Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda