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Article

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2009

Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca M A

Abstract excerpt

Congenital disorder of glycosylation Ia (CDG-Ia) is a metabolic disease with a broad spectrum of clinical signs, including recently described mild phenotypes. Our aim was to describe the clinical presentation and follow-up of eight CDG-Ia patients highlighting atypical features and aspects of evolution of the disease. CDG diagnosis was confirmed by enzymatic analysis of phosphomannomutase (PMM2) and molecular...

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Source

Identifiers

PMID: 18948042
DOI: 10.1016/j.ejpn.2008.09.002

Genes

PMM2

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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