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Article

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

Journal of inherited metabolic disease - 1 Jan 2025

Weixel Tara, Adedipe Dee, Muldoon Glennis, Lam Christina, Krasnewich Donna, Thurm Audrey, Wolfe Lynne

Abstract excerpt

PMM2-CDG (formerly CDG-1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2-CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide. There have been few natural history studies reporting neurodevelopmental characterization of PMM2-CDG. Thus, a prospective study was...

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Identifiers

PMID: 39105373
DOI: 10.1002/jimd.12782
PMCID: PMC11670447

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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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