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Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ead49bbddb1644f689b4f75152da451e

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

About this item

Full title

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

Publisher

Hoboken, USA: John Wiley & Sons, Inc

Journal title

JIMD reports, 2021-11, Vol.62 (1), p.22-29

Language

English

Formats

Publication information

Publisher

Hoboken, USA: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

ABSTRACT
For the first time the glycosylation of a patient with a MPI‐CDG during pregnancy is monitored. MPI‐CDG, is characterised by a deficiency in mannose‐6‐phosphate isomerase (MPI) leading to a reduced pool of glycosylation precursors, impairing the biosynthesis of N‐glycans leading to N‐glycosylation defects. The abnormal N‐glycosylation p...

Alternative Titles

Full title

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_ead49bbddb1644f689b4f75152da451e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ead49bbddb1644f689b4f75152da451e

Other Identifiers

ISSN

2192-8312,2192-8304

E-ISSN

2192-8312

DOI

10.1002/jmd2.12247

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