Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral...
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
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Language
English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Contents
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 antithrombin, proteins C and S, factor XI). In th...
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Full title
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
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TN_cdi_doaj_primary_oai_doaj_org_article_c9c66d080ae6452293a4977f6ec20bc8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c9c66d080ae6452293a4977f6ec20bc8
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ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12149
