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

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

The Turkish journal of pediatrics - 1 Jan 2019

Kör Deniz, Şeker-Yılmaz Berna, Bulut Fatma Derya, Kılavuz Sebile, Öktem Murat, Ceylaner Serdar, Yıldızdaş Dinçer, Önenli-Mungan Neslihan

Abstract excerpt

Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. Turk J Pediatr 2019; 61: 330-336. Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of one of the four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and is characterized by coma and death in...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Caenorhabditis elegans Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Methylmalonyl-CoA Decarboxylase

Share to Phenotype

Share to Turkey

Source

Identifiers

PMID: 31916709
DOI: 10.24953/turkjped.2019.03.003

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.PMID 31916709Read ↗

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

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

[Phenotypes and genotypes of 78 patients with 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 ↗

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 ↗

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

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.Semantic proximity Read ↗

Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.Semantic proximity Read ↗

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

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

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.Semantic proximity Read ↗

Prevalence of propionic acidemia in ChinaSemantic proximity Read ↗

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