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Article

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

American journal of human genetics - 1 Feb 2001

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G

Abstract excerpt

Congenital disorders of glycosylation (CDGs) are a rapidly enlarging group of inherited diseases with abnormal N-glycosylation of glycoconjugates. Most patients have CDG-Ia, which is due to a phosphomannomutase (PMM) deficiency. In this article, we report that a significant portion (9 of 54) of patients with CDG-Ia had a rather high residual PMM activity in fibroblasts included in the normal range (means of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Phosphotransferases (Phosphomutases)

Source

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Identifiers

PMID: 11156536
DOI: 10.1086/318199
PMCID: PMC1235268

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).PMID 11156536Read ↗

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