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Article

A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG).

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2023

Yu Shufeng, Zhang Ying, Chen Zhihong, Song Jiye, Wang Caixia

Abstract excerpt

BACKGROUND: Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with an early-onset age and poor prognosis. DOLK-CDG can cause the dysfunction of multiple systems and organs such as the heart, skin, nerves, and bones. CASE PRESENTATION: We report a child with DOLK-CDG diagnosed and treated in the Affiliated Hospital of Qingdao University....

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PMID: 35674301
DOI: 10.2174/1871530322666220607123739

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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