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Article

Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix.

The Turkish journal of pediatrics - 1 Jan 2020

Kılıç Betül, Akkuş Nejmiye

Abstract excerpt

Congenital glycosylation disorders (CDG) are a group of rare hereditary metabolic diseases that result from abnormal protein and lipid glycosylation. Virtually all organ systems can be affected, and neurological involvement is particularly severe and disabling. More than 100 CDG types have been reported to date and those numbers are rapidly increasing. Each type is very rare, and the clinical characteristics of...

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Identifiers

PMID: 32253875
DOI: 10.24953/turkjped.2020.01.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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