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Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2598051

Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

About this item

Full title

Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2007-04, Vol.44 (4), p.277-jmg

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like features and CDG-Ia have...

Alternative Titles

Full title

Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2598051

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2598051

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg.2006.044735

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