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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
A. Čechová, R. Altassan, D. Borgel, A. Bruneel, J. Correia, M. Girard, A. Harroche, B. Kiec-Wilk, K. Mohnike, T. Pascreau, Ł. Pawliński, S. Radenkovic, S. Vuillaumier-Barrot, L. Aldamiz-Echevarria, ML. Couce, EG. Martins, D. Quelhas, E. Morava,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem, přehledy
Grantová podpora
U54 NS115198
NINDS NIH HHS - United States
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
32266963
DOI
10.1002/jimd.12241
Knihovny.cz E-zdroje
- MeSH
- konsensus MeSH
- lidé MeSH
- management nemoci MeSH
- mannosa-6-fosfátisomerasa nedostatek genetika MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- vrozené poruchy glykosylace diagnóza enzymologie terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of protein N-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI-CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence-based data and experts' opinions. Those guidelines also reveal more questions about MPI-CDG which need to be further studied.
Department of Biochemistry Assistance Publique Hôpitaux de Paris Bichat Hospital Paris France
Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA
Department of Development and Regeneration KU Leuven Leuven Belgium
Department of Metabolic Diseases JUMC Krakow and NSSU University Hospital Krakow Poland
Department of Paediatrics and Metabolic Center University Hospitals Leuven Leuven Belgium
Department of Paediatrics Otto von Guericke University Magdeburg Germany
Citace poskytuje Crossref.org
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