Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

Author:

Vals Mari-Anne123ORCID,Ashikov Angel4,Ilves Pilvi56,Loorits Dagmar56,Zeng Qiang7,Barone Rita89,Huijben Karin10,Sykut-Cegielska Jolanta11,Diogo Luísa12,Elias Abdallah F.13,Greenwood Robert S.14,Grunewald Stephanie15,van Hasselt Peter M.16,van de Kamp Jiddeke M.17,Mancini Grazia18,Okninska Agnieszka19,Pajusalu Sander12,Rudd Pauline M.7,Rustad Cecilie F.20,Salvarinova Ramona21,de Vries Bert B.A.22,Wolf Nicole I.23,Ng Bobby G.24,Freeze Hudson H.24,Lefeber Dirk J.410,Õunap Katrin12,

Affiliation:

1. Department of Clinical Genetics, United Laboratories; Tartu University Hospital; Tartu Estonia

2. Department of Clinical Genetics, Institute of Clinical Medicine; University of Tartu; Tartu Estonia

3. Children's Clinic; Tartu University Hospital; Tartu Estonia

4. Donders Institute for Brain, Cognition, and Behavior, Department of Neurology; Radboud University Medical Center; Nijmegen The Netherlands

5. Radiology Clinic, Tartu University Hospital; Tartu Estonia

6. Department of Radiology, Institute of Clinical Medicine; University of Tartu; Tartu Estonia

7. GlycoScience Group; National Institute for Bioprocessing Research & Training; Dublin Ireland

8. Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine; University of Catania; Catania Italy

9. Department of Clinical and Experimental Medicine; Referral Centre for Inherited Metabolic Diseases, University of Catania; Catania Italy

10. Department of Laboratory Medicine, Translational Metabolic Laboratory; Radboud University Medical Center; Nijmegen The Netherlands

11. Department of Inborn Errors of Metabolism and Paediatrics; Institute of Mother and Child; Warsaw Poland

12. Child Developmental Center, Hospital Pediátrico, Center for Inherited Metabolic Diseases; Centro Hospitalar e Universitário de Coimbra; Coimbra Portugal

13. Department of Medical Genetics; Shodair Children's Hospital; Helena Montana

14. Department of Neurology, University of North Carolina School of Medicine; The University of North Carolina at Chapel Hill; Chapel Hill North Carolina

15. Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health; University College London, NHS Trust; London UK

16. Division Pediatrics, Metabolic Diseases; Wilhelmina Children's Hospital (Part of UMC Utrecht); Utrecht The Netherlands

17. Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

18. Department of Clinical Genetics; Erasmus MC University Medical Centre; Rotterdam The Netherlands

19. Clinic of Children and Adolescent Neurology; Institute of Mother and Child; Warsaw Poland

20. Department of Medical Genetics; Oslo University Hospital; Oslo Norway

21. Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital; UBC BC Children's Hospital Research Institute; Vancouver Canada

22. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour; Radboud University Medical Center; Nijmegen The Netherlands

23. Department of Child Neurology and Amsterdam Neuroscience; VU University Medical Center; Amsterdam The Netherlands

24. Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute; La Jolla California

Funder

Eesti Teadusagentuur

H2020 European Institute of Innovation and Technology

National Institutes of Health

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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