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Article

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Journal of inherited metabolic disease - 1 Oct 2010

Pérez Belén, Angaroni Celia, Sánchez-Alcudia Rocio, Merinero Begoña, Pérez-Cerdá Celia, Specola N, Rodríguez-Pombo P, Wajner Moacir, de Kremer Raquel Dodelson, Cornejo Verónica, Desviat Lourdes R, Ugarte Magdalena

Abstract excerpt

In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients. In the PA patients, we have identified four different changes in the PCCA gene, including one novel one (c.414+5G>A) affecting the splicing process. The PCCB mutational spectrum included two prevalent changes accounting for close to 60% of the mutant alleles studied...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20549364
DOI: 10.1007/s10545-010-9116-4

Genes

MMAB
PCCA
PCCB

Variants

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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