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Article

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

American journal of medical genetics. Part A - 1 Sept 2017

Rush Eric T, Baker Craig V, Rizzo William B

Abstract excerpt

Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to...

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Source

Identifiers

PMID: 28816422
DOI: 10.1002/ajmg.a.38287

Genes

DOLK

Variants

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.

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Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.PMID 28816422Read ↗

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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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Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-MannosylationSemantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.Semantic proximity Read ↗

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