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3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
Meyer, Melanie; Hollenbeck, Jana C; Reunert, Janine; Seelhöfer, Anja; Rust, Stephan; Fobker, Manfred; Biskup, Saskia; Och, Ulrike; Linden, Mechthild; Sass, Jörn Oliver; Marquardt, Thorsten.
Afiliación
  • Meyer M; Department of General Pediatrics, University Hospital, Münster, Germany.
  • Hollenbeck JC; Bonn-Rhein-Sieg University of Applied Sciences, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), RG Inborn Errors of Metabolism, Rheinbach, Germany.
  • Reunert J; Department of General Pediatrics, University Hospital, Münster, Germany.
  • Seelhöfer A; Department of General Pediatrics, University Hospital, Münster, Germany.
  • Rust S; Department of General Pediatrics, University Hospital, Münster, Germany.
  • Fobker M; Center for Laboratory Medicine, University Hospital, Münster, Germany.
  • Biskup S; CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Och U; Department of General Pediatrics, University Hospital, Münster, Germany.
  • Linden M; private address.
  • Sass JO; Bonn-Rhein-Sieg University of Applied Sciences, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), RG Inborn Errors of Metabolism, Rheinbach, Germany.
  • Marquardt T; Department of General Pediatrics, University Hospital, Münster, Germany.
J Inherit Metab Dis ; 44(6): 1323-1329, 2021 11.
Article en En | MEDLINE | ID: mdl-34176136
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Oxidorreductasas de Alcohol / Errores Innatos del Metabolismo de los Aminoácidos / Hidroxibutiratos Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Oxidorreductasas de Alcohol / Errores Innatos del Metabolismo de los Aminoácidos / Hidroxibutiratos Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania