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; 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, depletion of...

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Autores principales: Mühlhausen, Chris, Henneke, Lisa, Schlotawa, Lars, Behme, Daniel, Grüneberg, Marianne, Gärtner, Jutta, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463055/
https://www.ncbi.nlm.nih.gov/pubmed/32905087
http://dx.doi.org/10.1002/jmd2.12149

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