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Article

Recognizable phenotypes in CDG.

Journal of inherited metabolic disease - 1 May 2018

Ferreira Carlos R, Altassan Ruqaia, Marques-Da-Silva Dorinda, Francisco Rita, Jaeken Jaak, Morava Eva

Abstract excerpt

Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Congenital Disorders of Glycosylation

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Source

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Identifiers

PMID: 29654385
DOI: 10.1007/s10545-018-0156-5
PMCID: PMC5960425

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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