Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation-Reference-Cited by-同舟云学术

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

Published:2020-04-21 Issue:4 Volume:43 Page:671-693
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Čechová Anna¹^ORCID,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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12241

Reference98 articles.

1. CONGENITAL HEPATIC FIBROSIS COMBINED WITH PROTEIN-LOSING ENTEROPATHY AND RECURRENT THROMBOSIS

2. Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: A new syndrome

3. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

4. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

5. Variable outcome and the effect of mannose in congenital disorder of glycosylation type Ib (CDG‐Ib);Kjaergaard S;J Inherit Metab Dis,2000

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