AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Author:

Pearson Toni S.1ORCID,Gilbert Laura1,Opladen Thomas2,Garcia‐Cazorla Angeles3,Mastrangelo Mario4,Leuzzi Vincenzo4,Tay Stacy K. H.5,Sykut‐Cegielska Jolanta6,Pons Roser7,Mercimek‐Andrews Saadet8,Kato Mitsuhiro9,Lücke Thomas10,Oppebøen Mari11,Kurian Manju A.12,Steel Dora12,Manti Filippo4,Meeks Kathleen D.1,Jeltsch Kathrin2,Flint Lisa13

Affiliation:

1. Department of Neurology Washington University School of Medicine St. Louis Missouri USA

2. Division of Child Neurology & Metabolic Medicine University Children's Hospital Heidelberg Germany

3. Inborn Errors of Metabolism Unit Institut de Recerca Sant Joan de Déu and CIBERER‐ISCIII Barcelona Spain

4. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience Sapienza University of Rome Rome Italy

5. KTP‐National University Children's Medical Institute National University Health System Singapore Singapore

6. Department of Inborn Errors of Metabolism and Pediatrics Institute of Mother and Child Warsaw Poland

7. First Department of Pediatrics, Aghia Sofia Hospital University of Athens Athens Greece

8. Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

9. Department of Pediatrics Showa University School of Medicine Tokyo Japan

10. University Children's Hospital, St. Josef‐Hospital, Ruhr‐University Bochum Bochum Germany

11. Division of Child Neurology Oslo University Hospital Oslo Norway

12. Developmental Neurosciences, UCL Great Ormond Street‐Institute of Child Health and Department of Neurology Great Ormond Street Hospital London UK

13. AADC Research Trust Caterham UK

Funder

European Regional Development Fund

Instituto de Salud Carlos III

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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