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

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...

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Gepubliceerd in:J Inherit Metab Dis
Hoofdauteurs: Čechová, Anna, Altassan, Ruqaiah, Borgel, Delphine, Bruneel, Arnaud, Correia, Joana, Girard, Muriel, Harroche, Annie, Kiec-Wilk, Beata, Mohnike, Klaus, Pascreau, Tiffany, Pawliński, Łukasz, Radenkovic, Silvia, Vuillaumier-Barrot, Sandrine, Aldamiz-Echevarria, Luis, Couce, Maria Luz, Martins, Esmeralda G., Quelhas, Dulce, Morava, Eva, de Lonlay, Pascale, Witters, Peter, Honzík, Tomáš
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7574589/
https://ncbi.nlm.nih.gov/pubmed/32266963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12241
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