International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management

Author:

Altassan Ruqaiah12,Radenkovic Silvia3456,Edmondson Andrew C.7,Barone Rita8,Brasil Sandra91011,Cechova Anna12,Coman David13,Donoghue Sarah14,Falkenstein Kristina15,Ferreira Vanessa9,Ferreira Carlos16,Fiumara Agata8,Francisco Rita91011,Freeze Hudson17,Grunewald Stephanie18,Honzik Tomas12,Jaeken Jaak19,Krasnewich Donna16,Lam Christina2021,Lee Joy14,Lefeber Dirk22,Marques‐da‐Silva Dorinda91011,Pascoal Carlota91011,Quelhas Dulce23,Raymond Kimiyo M.24,Rymen Daisy25,Seroczynska Malgorzata26,Serrano Mercedes27,Sykut‐Cegielska Jolanta26,Thiel Christian15,Tort Frederic28,Vals Mari‐Anne29,Videira Paula1011,Voermans Nicol30,Witters Peter2531,Morava Eva6

Affiliation:

1. Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. College of Medicine, Alfaisal University Riyadh Saudi Arabia

3. Metabolomics Expertise Center, Center for Cancer Biology VIB Leuven Belgium

4. Metabolomics Expertise Center, Department of Oncology KU Leuven Leuven Belgium

5. Laboratory of Hepatology, Department CHROMETA KU Leuven Leuven Belgium

6. Department of Clinical Genomics and Laboratory of Medical Pathology Mayo Clinic Rochester Minnesota USA

7. Department of Pediatrics, Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

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

9. Portuguese Association for Congenital Disorders of Glycosylation (CDG) Lisbon Portugal

10. UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia Universidade NOVA de Lisboa Caparica, Lisbon Portugal

11. Professionals and Patient Associations International Network (CDG & Allies‐PPAIN) Lisbon Portugal

12. Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

13. Metabolic Medicine, Queensland Children's Hospital Brisbane Australia

14. Department of Metabolic Medicine The Royal Children's Hospital Melbourne Victoria Australia

15. Center for Child and Adolescent Medicine, Department University of Heidelberg Heidelberg Germany

16. National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

17. Sanford Children's Health Research Center Sanford‐Burnham‐Prebys Medical Discovery Institute La Jolla California USA

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

19. Center for Metabolic Diseases KU Leuven Leuven Belgium

20. Division of Genetic Medicine, Department of Pediatrics University of Washington School of Medicine Seattle Washington USA

21. Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington USA

22. Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands

23. Centro de Genética Médica Doutor Jacinto Magalhães Unidade de Bioquímica Genética Porto Portugal

24. Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine Rochester Minnesota USA

25. Department of Paediatrics and Metabolic Center University Hospitals Leuven Leuven Belgium

26. Department of Inborn Errors of Metabolism and Paediatrics the Institute of Mother and Child Warsaw Poland

27. Neurology Department Hospital Sant Joan de Déu, U‐703 Centre for Biomedical Research on Rare Diseases (CIBER‐ER), Instituto de Salud Carlos III Barcelona Spain

28. Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics Hospital Clínic, IDIBAPS, CIBERER Barcelona Spain

29. Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu Tartu Estonia

30. Department of Neurology Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen the Netherlands

31. Department of Development and Regeneration KU Leuven Leuven Belgium

Funder

National Institutes of Health

Universitaire Ziekenhuizen Leuven, KU Leuven

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 25 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Determining the Linguistic Profile of Children With Rare Genetic Disorders;Journal of Speech, Language, and Hearing Research;2024-01-08

2. Congenital disorders of glycosylation (CDG): state of the art in 2022;Orphanet Journal of Rare Diseases;2023-10-19

3. Glycogen storage diseases;Nature Reviews Disease Primers;2023-09-07

4. Gene therapy for glycogen storage diseases;Journal of Inherited Metabolic Disease;2023-07-27

5. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG);Translational Research;2023-07

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