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Article

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Journal of inherited metabolic disease - 1 Dec 2002

Briones P, Vilaseca M A, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E, Matthijs G, Jaeken J, Chabás A

Abstract excerpt

We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders of glycosylation classified as type Ia due to PMM deficiency. In all but one of these CDG Ia families the patients are compound heterozygous for mutations in PMM2. Eighteen different mutations were...

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Source

Identifiers

PMID: 12705494
DOI: 10.1023/a:1022825113506

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12705494-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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