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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
R. Altassan, R. Péanne, J. Jaeken, R. Barone, M. Bidet, D. Borgel, S. Brasil, D. Cassiman, A. Cechova, D. Coman, J. Corral, J. Correia, ME. de la Morena-Barrio, P. de Lonlay, V. Dos Reis, CR. Ferreira, A. Fiumara, R. Francisco, H. Freeze, S....
Journal of inherited metabolic disease.
2019 ;
42 (1) :
5-28.
[pub] -
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem, systematický přehled
Perzistentní odkaz
https://www.medvik.cz/link/bmc20022950
Grantová podpora
NV16-31932A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
Medline Complete (EBSCOhost)
od 2009-08-01 do Před 1 rokem
PubMed
30740725
DOI
10.1002/jimd.12024
Knihovny.cz E-zdroje
- MeSH
- fosfotransferasy (fosfomutasy) nedostatek MeSH
- glykosylace MeSH
- lidé MeSH
- následné studie MeSH
- vrozené poruchy glykosylace diagnóza farmakoterapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- systematický přehled MeSH
Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.
AP HP Bichat Hospital Université Paris Descartes Paris France
AP HP Service d'Hématologie Biologique Hôpital R Debré Paris France
Center for Child and Adolescent Medicine Department University of Heidelberg Heidelberg Germany
Centro de Referência Doenças Hereditárias do Metabolismo Centro Hospitalar do Porto Porto Portugal
Department of Clinical Genetics Institute of Clinical Medicine University of Tartu Tartu Estonia
Department of Human Genetics KU Leuven Leuven Belgium
Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands
Department of Obstetrics and Gynecology Division of Neonatology University of Pécs Pecs Hungary
Department of Paediatric Endocrinology and Diabetology Jessa Hospital Hasselt Belgium
INSERM U1176 Université Paris Sud CHU de Bicêtre Le Kremlin Bicêtre France
Metabolic and Genetic department Sarem Woman's Hospital Tehrān Iran
National Human Genome Research Institute National Institutes of Health Bethesda Maryland
Neonatal Research Center Shiraz University of Medical Sciences Shiraz Iran
Citace poskytuje Crossref.org
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- $a Altassan, Ruqaiah $u Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada. Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Fiumara, Agata $u Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
- 700 1_
- $a Francisco, Rita $u Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal. Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal. UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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