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Article

Molecular picture of cobalamin C/D defects before and after newborn screening era.

Journal of medical screening - 1 Mar 2017

Nogueira C, Marcão A, Rocha H, Sousa C, Fonseca H, Valongo C, Vilarinho L

Abstract excerpt

Objective Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expanded newborn screening. Methods Twenty-five Portuguese CblC/D patients, 14 symptomatic and 11 identified through screening, were diagnosed using gas chromatography or...

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Source

Identifiers

PMID: 27252276
DOI: 10.1177/0969141316641149

Genes

MMACHC
MMADHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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