Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

Author:

Mütze Ulrike1ORCID,Henze Lucy1,Gleich Florian1,Lindner Martin2,Grünert Sarah C.3,Spiekerkoetter Ute3,Santer René4,Blessing Holger5,Thimm Eva6,Ensenauer Regina67,Weigel Johannes8,Beblo Skadi9,Arélin Maria9,Hennermann Julia B.10,Marquardt Thorsten11,Marquardt Iris12,Freisinger Peter13,Krämer Johannes14,Dieckmann Andrea15,Weinhold Natalie16,Keller Mareike1,Walter Magdalena1,Schiergens Katharina A.17,Maier Esther M.17,Hoffmann Georg F.1,Garbade Sven F.1,Kölker Stefan1

Affiliation:

1. Division of Child Neurology and Metabolic Medicine Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg Heidelberg Germany

2. Division of Pediatric Neurology University Children's Hospital Frankfurt Frankfurt Germany

3. Department of General Pediatrics, Adolescent Medicine and Neonatology Medical Center – University of Freiburg, Faculty of Medicine Freiburg Germany

4. Department of Pediatrics University Medical Centre Eppendorf Hamburg Germany

5. Kinder‐ und Jugendklinik, Universitätsklinikum Erlangen Erlangen Germany

6. Department of General Pediatrics, Neonatology, and Pediatric Cardiology University Children's Hospital, Heinrich Heine University Düsseldorf Düsseldorf Germany

7. Institute of Child Nutrition, Max‐Rubner‐Institut Karlsruhe Germany

8. Praxis für Kinder‐ und Jugendmedizin, Endokrinologie und Stoffwechsel Augsburg Germany

9. Department of Women and Child Health, Hospital for Children and Adolescents Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig Leipzig Germany

10. Villa Metabolica, Department for Pediatric and Adolescent Medicine Mainz University Medical Center Mainz Germany

11. Department of General Pediatrics, Metabolic Diseases University Children's Hospital Muenster Muenster Germany

12. Department of Child Neurology Children's Hospital Oldenburg Oldenburg Germany

13. Children's Hospital Reutlingen Klinikum am Steinenberg Reutlingen Germany

14. University of Ulm Department of Pediatric and Adolescent Medicine Ulm Germany

15. Center for Inborn Metabolic Disorders, Department of Neuropediatrics Jena University Hospital Jena Germany

16. 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

17. Dr. von Hauner Children's Hospital, Ludwig‐Maximilians‐University Munich Germany

Funder

Dietmar Hopp Stiftung

Medizinischen Fakultät Heidelberg, Universität Heidelberg

Nutricia Research Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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