Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Author:

Forny Patrick1ORCID,Hörster Friederike2,Ballhausen Diana3,Chakrapani Anupam4,Chapman Kimberly A.5,Dionisi‐Vici Carlo6,Dixon Marjorie7,Grünert Sarah C.8,Grunewald Stephanie4,Haliloglu Goknur9,Hochuli Michel10,Honzik Tomas11,Karall Daniela12,Martinelli Diego6,Molema Femke13,Sass Jörn Oliver14,Scholl‐Bürgi Sabine12,Tal Galit15,Williams Monique13,Huemer Martina116,Baumgartner Matthias R.1

Affiliation:

1. Division of Metabolism and Children's Research Center University Children's Hospital Zurich, University of Zurich Zurich Switzerland

2. Division of Neuropediatrics and Metabolic Medicine University Hospital Heidelberg Heidelberg Germany

3. Paediatric Unit for Metabolic Diseases, Department of Woman‐Mother‐Child University Hospital Lausanne Lausanne Switzerland

4. Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health NIHR Biomedical Research Center (BRC), University College London London UK

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

6. Division of Metabolism, Department of Pediatric Specialties Bambino Gesù Children's Hospital Rome Italy

7. Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust London UK

8. Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre‐University of Freiburg Faculty of Medicine Freiburg Germany

9. Department of Pediatrics, Division of Pediatric Neurology Hacettepe University Children's Hospital Ankara Turkey

10. Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital Bern University Hospital and University of Bern Bern Switzerland

11. Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

12. Department of Paediatrics I, Inherited Metabolic Disorders Medical University of Innsbruck Innsbruck Austria

13. Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands

14. Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA) Bonn‐Rhein Sieg University of Applied Sciences Rheinbach Germany

15. Metabolic Unit, Ruth Rappaport Children's Hospital Rambam Health Care Campus Haifa Israel

16. Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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