Presentation of Congenital Disorders of Glycosylation Type 1a
- 1 March 2010
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Pediatric Emergency Care
- Vol. 26 (3), 215-217
- https://doi.org/10.1097/pec.0b013e3181d1e733
Abstract
This case outlines a classic presentation of the most common type of a recently categorized set of disorders known as congenital disorders of glycosylation.Keywords
This publication has 4 references indexed in Scilit:
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- New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and Their Impact on the Endocrine SystemReviews in Endocrine and Metabolic Disorders, 2003
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- A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesJournal of Medical Genetics, 2001