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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Grünert, Sarah C; Spiekerkoetter, Ute; Santer, René; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arélin, Maria; Hennermann, Julia B; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Krämer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A; Maier, Esther M; Hoffmann, Georg F; Garbade, Sven F; Kölker, Stefan.
Afiliação
  • Mütze U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Henze L; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Gleich F; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany.
  • Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Santer R; Department of Pediatrics, University Medical Centre Eppendorf, Hamburg, Germany.
  • Blessing H; Kinder- und Jugendklinik, Universitätsklinikum Erlangen, Erlangen, Germany.
  • Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Ensenauer R; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Weigel J; Institute of Child Nutrition, Max-Rubner-Institut, Karlsruhe, Germany.
  • Beblo S; Praxis für Kinder- und Jugendmedizin, Endokrinologie und Stoffwechsel, Augsburg, Germany.
  • Arélin M; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany.
  • Hennermann JB; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany.
  • Marquardt T; Villa Metabolica, Department for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany.
  • Marquardt I; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany.
  • Freisinger P; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany.
  • Krämer J; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany.
  • Dieckmann A; University of Ulm, Department of Pediatric and Adolescent Medicine, Ulm, Germany.
  • Weinhold N; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
  • Keller M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Center for Chronically Sick Children, Berlin, Germany.
  • Walter M; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Schiergens KA; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
  • Hoffmann GF; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
  • Garbade SF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
J Inherit Metab Dis ; 44(4): 857-870, 2021 07.
Article em En | MEDLINE | ID: mdl-33496032
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Transtornos Neurocognitivos / Isovaleril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Transtornos Neurocognitivos / Isovaleril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Idioma: En Ano de publicação: 2021 Tipo de documento: Article