Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

European journal of human genetics : EJHG - 1 Mar 2000

Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat L R, Muro S, Richard E, García M J, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga M L, Lema-Garrett T, Verdú A, Ugarte M

Abstract excerpt

Propionic acidaemia (PA) is an autosomal recessive disorder caused by mutations in either of the PCCA or PCCB genes which encode the alpha and beta subunits, respectively, of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). In this work we have examined the biochemical findings and clini...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biotin
Share to Blotting, Northern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blotting, Western

Share to Carboxy-Lyases

Share to Genetic Complementation Test

Share to Methylmalonyl-CoA Decarboxylase

Share to Tritium

Source

Identifiers

PMID: 10780784
DOI: 10.1038/sj.ejhg.5200442

Genes

PCCA
PCCB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10780784-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.PMID 10780784Read ↗

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.Semantic proximity Read ↗

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.Semantic proximity Read ↗

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.Semantic proximity Read ↗

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.Semantic proximity Read ↗

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.Semantic proximity Read ↗

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.Semantic proximity Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.Semantic proximity Read ↗

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.Semantic proximity Read ↗

Mutation analysis in 54 propionic acidemia patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.