Associated Papers
Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.
Lu S et al.
Frontiers in Pediatrics, 2023
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A et al.
Journal of Inherited Metabolic Disease, 2020
MPI-CDG with transient hypoglycosylation and antithrombin deficiency.
de la Morena-Barrio ME et al.
Haematologica, 2019
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
Helander A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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