Discover Community Create You

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

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

Molecular genetics and metabolism - 1 Nov 2020

Wenger Olivia, Brown Miraides, Smith Brandon, Chowdhury Devyani, Crosby Andrew H, Baple Emma L, Yoder Mark, Laxen William, Tortorelli Silvia, Strauss Kevin A

Abstract excerpt

Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers, and disease progression are poorly understood. Sixteen individuals homozygous for PCCB c.1606A > G (p.Asn536Asp) variant PA participated in a two-week suspension of...

Read the complete abstract on PubMed

Topics

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

Share to Acids
Share to Amino Acids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carbon-Carbon Ligases

Share to Carnitine

Share to Echocardiography

Share to Neurodevelopmental Disorders

Share to Organic Chemicals

Source

Identifiers

PMID: 33127324
DOI: 10.1016/j.ymgme.2020.09.006

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.PMID 33127324Read ↗

[Phenotypes and genotypes of 78 patients with propionic acidemia].Semantic proximity Read ↗

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.Semantic proximity Read ↗

Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.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 ↗

Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from ChinaSemantic proximity Read ↗

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

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.Semantic proximity Read ↗

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

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.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 ↗

Prevalence of propionic acidemia in ChinaSemantic proximity Read ↗

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