Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Author:

Boy Nikolas1ORCID,Mühlhausen Chris2,Maier Esther M.3,Ballhausen Diana4,Baumgartner Matthias R.5,Beblo Skadi6,Burgard Peter1,Chapman Kimberly A.7,Dobbelaere Dries8,Heringer‐Seifert Jana1,Fleissner Sandra3,Grohmann‐Held Karina9,Hahn Gabriele10,Harting Inga11,Hoffmann Georg F.1,Jochum Frank12,Karall Daniela13,Konstantopoulous Vassiliki14,Krawinkel Michael B.15,Lindner Martin16,Märtner E. M. Charlotte1,Nuoffer Jean‐Marc17,Okun Jürgen G.1,Plecko Barbara18,Posset Roland1,Sahm Katja1,Scholl‐Bürgi Sabine12,Thimm Eva19,Walter Magdalena1,Williams Monique20,vom Dahl Stephan21,Ziagaki Athanasia22,Zschocke Johannes23,Kölker Stefan1

Affiliation:

1. Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine University Hospital Heidelberg Heidelberg Germany

2. Department of Paediatrics and Adolescent Medicine University Medical Centre Göttingen Germany

3. Dr von Hauner Children's Hospital, Ludwig‐Maximilians‐University of Munich University of Munich Medical Centre Munich Germany

4. Paediatric Metabolic Unit, Paediatrics, Woman‐Mother‐Child Department Lausanne University Hospital and University of Lausanne Switzerland

5. Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich University of Zurich Zurich Switzerland

6. Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals University of Leipzig Leipzig Germany

7. Rare Disease Institute, Children's National Health System Washington District of Columbia USA

8. Department of Paediatric Metabolism, Reference Centre of Inherited Metabolic Disorders Jeanne de Flandre Hospital Lille France

9. Centre for Child and Adolescent Medicine University Hospital Greifswald Greifswald Germany

10. Department of Radiological Diagnostics, UMC University of Dresden Dresden Germany

11. Department of Neuroradiology University Hospital Heidelberg Heidelberg Germany

12. Evangelisches Waldkrankenhaus Spandau Berlin Germany

13. Clinic for Paediatrics I, Inherited Metabolic Disorders Medical University of Innsbruck Innsbruck Austria

14. Department of Paediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria

15. Institute of Nutritional Science, Justus Liebig University Giessen Giessen Germany

16. Division of Metabolic Diseases University Children's Hospital Frankfurt Frankfurt Germany

17. University Institute of Clinical Chemistry University of Bern Bern Switzerland

18. Department of Paediatrics and Adolescent Medicine, Division of General Paediatrics University Children's Hospital Graz, Medical University Graz Graz Austria

19. Division of Experimental Paediatrics and Metabolism, Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital Heinrich Heine University Düsseldorf Düsseldorf Germany

20. Department of Paediatrics, Centre for Lysosomal and Metabolic Diseases Erasmus MC University Medical Centre Rotterdam The Netherlands

21. Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital University of Düsseldorf Düsseldorf Germany

22. Centre of Excellence for Rare Metabolic Diseases, Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism University‐Medicine Berlin Berlin Germany

23. Division of Human Genetics Medical University Innsbruck Innsbruck Austria

Funder

Andrew W. Mellon Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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