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Article

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

The Journal of pediatrics - 1 Apr 2017

Pérez-Cerdá Celia, Girós Ma Luisa, Serrano Mercedes, Ecay M Jesús, Gort Laura, Pérez Dueñas Belén, Medrano Celia, García-Alix Alfredo, Artuch Rafael, Briones Paz, Pérez Belén

Abstract excerpt

OBJECTIVE: To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years. STUDY DESIGN: Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were analyzed in serum; phosphomannomutase and mannosephosphate isomerase...

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Source

Identifiers

PMID: 28139241
DOI: 10.1016/j.jpeds.2016.12.060

Genes

PMM2
ALG1
ALG6
COG6
COG7
COG8
DOLK
DPM1
GFPT1
MPI
PGM1
RFT1
SSR4

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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