Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author:

van Vliet Kimber1,van Ginkel Willem G.1,Jahja Rianne1,Daly Anne2,MacDonald Anita2,Santra Saikat2,De Laet Corinne3,Goyens Philippe J.3,Vara Roshni4,Rahman Yusof5,Cassiman David6,Eyskens Francois7,Timmer Corrie8,Mumford Nicky9,Gissen Paul9,Bierau Jörgen10,van Hasselt Peter M.11,Wilcox Gisela1213,Morris Andrew A. M.14,Jameson Elisabeth A.14,de la Parra Alicia15,Arias Carolina15,Garcia Maria I.15,Cornejo Veronica15,Bosch Annet M.16,Hollak Carla E. M.17,Rubio‐Gozalbo M. Estela18,Brouwers Martijn C. G. J.1920,Hofstede Floris C.11,de Vries Maaike C.21,Janssen Mirian C. H.21,van der Ploeg Ans T.22,Langendonk Janneke G.23,Huijbregts Stephan C. J.24,van Spronsen Francjan J.1

Affiliation:

1. Division of Metabolic Diseases University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital Groningen The Netherlands

2. Birmingham Children's Hospital Birmingham UK

3. Hôpital Universitaire des Enfants Reine Fabiola Université Libre de Bruxelles Brussels Belgium

4. Evelina London Children's Hospital London UK

5. Guy's and St. Thomas’ Hospital London UK

6. University Hospital Gasthuisberg, University of Leuven Leuven Belgium

7. Kon. Mathilde Moeder‐ en Kindcentrum University Hospital of Antwerp Antwerp Belgium

8. Amsterdam UMC, Location AMC Amsterdam The Netherlands

9. NIHR Great Ormond Street Hospital Biomedical Research Centre University College London London UK

10. Maastricht University Medical Center Maastricht The Netherlands

11. Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands

12. School of Medical Sciences, Faculty of Biology Medicine & Health University of Manchester Manchester UK

13. The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust Salford UK

14. Willink Metabolic Unit, Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital Manchester UK

15. Laboratory of Genetics and Metabolic Disease (LABGEM), Institute of Nutrition and Food Technology (INTA) University of Chile Santiago Chile

16. Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands

17. Department of Internal Medicine Division of Endocrinology and Metabolism, Amsterdam UMC ‐ Location AMC Amsterdam The Netherlands

18. Departments of Pediatrics and Laboratory Genetic Metabolic Diseases Maastricht University Medical Hospital Maastricht The Netherlands

19. Department of Internal Medicine, Division of Endocrinology and Metabolic Disease Maastricht University Medical Centre Maastricht The Netherlands

20. CARIM School for Cardiovascular Diseases Maastricht University Maastricht The Netherlands

21. University Medical Center St Radboud Nijmegen Nijmegen The Netherlands

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

23. Department of Internal medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands

24. University of Leiden, Clinical Child and Adolescent Studies: Neurodevelopmental Disorders Leiden The Netherlands

Funder

Swedish Orphan Biovitrum

Tyrosinemia Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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