Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

Abstract Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG; formerly named CDG type 1b) is characterized by the clinical triad of hepatopathy, protein‐losing enteropathy, and hyperinsulinemic hypoglycemia in combination with coagulation disorder (thrombophilia, dep...

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Bibliographic Details
Main Authors: Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:JIMD Reports
Subjects:
antithrombin deficiency
cerebral venous sinus thrombosis
coagulation disorder
congenital disorder of glycosylation
MPI‐CDG
thrombophilia
Online Access:https://doi.org/10.1002/jmd2.12149

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