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Article

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.

Archives of disease in childhood - 1 Sept 2001

Kjaergaard S, Schwartz M, Skovby F

Abstract excerpt

AIMS: To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 genotype. METHODS: Clinical data on 25 patients (mean age 7.6 years, range 0-19) were analysed. RESULTS: All patients had an early presentation with severe feeding problems and failure to thrive, hypotonia, hepatic dysfunction, inverted nipples,...

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Identifiers

PMID: 11517108
DOI: 10.1136/adc.85.3.236
PMCID: PMC1718926

Genes

SDS
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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