Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

Author:

Čechová Anna1ORCID,Altassan Ruqaiah2,Borgel Delphine3,Bruneel Arnaud45,Correia Joana6,Girard Muriel7,Harroche Annie8,Kiec‐Wilk Beata9,Mohnike Klaus10,Pascreau Tiffany3,Pawliński Łukasz9,Radenkovic Silvia1112,Vuillaumier‐Barrot Sandrine413,Aldamiz‐Echevarria Luis14,Couce Maria Luz15,Martins Esmeralda G.6,Quelhas Dulce16,Morava Eva17,Lonlay Pascale18,Witters Peter1920,Honzík Tomáš1

Affiliation:

1. Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

2. Medical Genetic Department King Faisal Specialist Hospital and Research Center, Alfaisal University Riyadh Saudi Arabia

3. Service d'Hématologie Biologique, Hôpital Necker Assistance Publique‐Hôpitaux de Paris, Université Paris‐Saclay Paris France

4. Department of Biochemistry Assistance Publique‐Hôpitaux de Paris, Bichat Hospital Paris France

5. INSERM UMR1193, Mécanismes Cellulaires et Moléculaires de l'Adaptation au Stress et Cancérogenèse, Université Paris‐Saclay Châtenay‐Malabry France

6. Centro de Referência Doenças Hereditárias do Metabolismo ‐ Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal

7. Reference Center of Liver Diseases, Necker Hospital Assistance Publique‐Hôpitaux de Paris, University Paris Descartes Paris France

8. Hemophilia Care Centre, Hematology Unit Hôpital Necker, Assistance Publique‐Hôpitaux de Paris Paris France

9. Department of Metabolic Diseases JUMC Krakow and NSSU University Hospital Krakow Poland

10. Department of Paediatrics Otto‐von‐Guericke University Magdeburg Germany

11. Metabolomics Expertise Center, CCB‐VIB Leuven Belgium

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

13. INSERM U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot Paris France

14. Group of Metabolism, Biocruces Bizkaia Health Research Institute, Linked Clinical Group of Rare Diseases CIBER (CIBERER) Barakaldo Spain

15. Department of Pediatrics Congenital Metabolic Unit, University Clinical Hospital of Santiago, University of Santiago de Compostela, IDIS, CIBERER, MetabERN Santiago de Compostela Spain

16. Centro de Genética Médica Jacinto de Magalhães, Centro de Referência Doenças Hereditárias do Metabolismo ‐ Centro Hospitalar Universitário do Porto (CHUP), Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP Porto Portugal

17. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

18. Reference Center of Inherited Metabolic Diseases, Necker Hospital, APHP, University Paris Descartes, Filière G2M, MetabERN Paris France

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

20. Department of Development and Regeneration KU Leuven Leuven Belgium

Funder

National Institutes of Health

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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