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Article

SRD5A3-CDG: a patient with a novel mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2012

Kasapkara C S, Tümer L, Ezgü F S, Hasanoğlu A, Race V, Matthijs G, Jaeken J

Abstract excerpt

Congenital disorders of glycosylation (CDG) are genetic diseases with an extremely broad spectrum of clinical presentations due to defective glycosylation of glycoproteins and glycolipids. Some 45 CDG types have been reported since the first clinical description in 1980. Protein glycosylation disorders are defects in protein N- and/or O-glycosylation. Dolichol phosphate is the carrier of the N-glycan during their...

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Source

Identifiers

PMID: 22240719
DOI: 10.1016/j.ejpn.2011.12.011

Genes

DHDDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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SRD5A3-CDG: a patient with a novel mutation.PMID 22240719Read ↗

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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Semantic proximity Read ↗

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.Semantic proximity Read ↗

SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.Semantic proximity Read ↗

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.Semantic proximity Read ↗

SRD5A3-CDG: Twins with an intragenic tandem duplication.Semantic proximity Read ↗

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.Semantic proximity Read ↗

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Adult phenotype and further phenotypic variability in SRD5A3-CDG.Semantic proximity Read ↗

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