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Article

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

Journal of inherited metabolic disease - 1 Jan 2004

García-Silva M T, Matthijs G, Schollen E, Cabrera J C, Sanchez del Pozo J, Martí Herreros M, Simón R, Maties M, Martín Hernández E, Hennet T, Briones P

Abstract excerpt

CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM 1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families. One was homozygous for the c274C>G (R92G) mutation in DPM1 and two others were compound...

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Identifiers

PMID: 15669674
DOI: 10.1023/b:boli.0000042984.42433.d8

Genes

DPM1

Variants

Provenance

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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Congenital disorder of glycosylation (CDG) type Ie. A new patient.PMID 15669674Read ↗

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.Semantic proximity Read ↗

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.Semantic proximity Read ↗

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Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)Semantic proximity Read ↗

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