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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze, Ulrike; Henze, Lucy; Schröter, Julian; Gleich, Florian; Lindner, Martin; Grünert, Sarah C; Spiekerkoetter, Ute; Santer, René; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arélin, Maria; Hennermann, Julia B; Marquardt, Iris; Freisinger, Peter; Krämer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Schiergens, Katharina A; Maier, Esther M; Hoffmann, Georg F; Garbade, Sven F; Kölker, Stefan.
Afiliación
  • Mütze U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Henze L; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Schröter J; Division of Pediatric Epileptology, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Gleich F; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, 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.
  • 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 I; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, 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; Department of Pediatric and Adolescent Medicine, University of Ulm, Ulm, Germany.
  • Weinhold N; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
  • Schiergens KA; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Center of Chronically Sick Children, Berlin, 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, University Hospital Heidelberg, Heidelberg, Germany.
  • Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
J Inherit Metab Dis ; 46(6): 1063-1077, 2023 11.
Article en En | MEDLINE | ID: mdl-37429829
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Alemania