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Article

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

American journal of human genetics - 1 Mar 2007

Kranz Christian, Jungeblut Christoph, Denecke Jonas, Erlekotte Anne, Sohlbach Christina, Debus Volker, Kehl Hans Gerd, Harms Erik, Reith Anna, Reichel Sonja, Grobe Helfried, Hammersen Gerhard, Schwarzer Ulrich, Marquardt Thorsten

Abstract excerpt

The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency. DK1 is responsible for the final step of the de novo biosynthesis of dolichol phosphate. Dolichol phosphate is involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation. We identified four patients who...

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Identifiers

PMID: 17273964
DOI: 10.1086/512130
PMCID: PMC1821118

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GPI

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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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