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-Reference-Cited by-同舟云学术

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

Published:2020-08-06 Issue:1 Volume:55 Page:38-43
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Mühlhausen Chris¹^ORCID,Henneke Lisa¹,Schlotawa Lars¹,Behme Daniel²,Grüneberg Marianne³,Gärtner Jutta¹,Marquardt Thorsten³

Affiliation:

1. Department of Pediatrics and Adolescent Medicine University Medical Centre Göttingen Göttingen Germany

2. Department of Neuroradiology University Medical Centre Göttingen Göttingen Germany

3. Department of General Paediatrics University of Münster Münster Germany

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12149

Reference12 articles.

1. Congenital disorders of glycosylation

2. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

3. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

4. Clinical utility gene card for: phosphomannose isomerase deficiency;Jaeken J;Eur J Hum Genet,2014

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