ArticleMolecular genetics and metabolism reports2019
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Article
- Precision metabolic therapy for propionic acidemia.Biochemical pharmacology · 2026Review
- Propionic acidemia in Mexico: Clinical and genotypic spectrum.Molecular genetics and metabolism reports · 2026Article
- Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.International journal of neonatal screening · 2026Review
- Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.Cellular and molecular life sciences : CMLS · 2025Article
- Six Chinese patients with propionic acidemia: from asymptomatic to death in the neonatal period.Orphanet journal of rare diseases · 2025Article
- Combined Heart and Liver Transplantation in Delayed-Onset Propionic Acidemia.ACG case reports journal · 2024Article
- Propionic Acidemia, Cardiomyopathies, and Arrhythmias.Journal of clinical practice and research · 2024Review
- Pathophysiological mechanisms of complications associated with propionic acidemia.Pharmacology & therapeutics · 2023Review
- Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.Journal of inherited metabolic disease · 2023Article
- Development of simple and effective PCR based assay to detectSaudi journal of biological sciences · 2022Article
- Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis.Molecular genetics and metabolism reports · 2021Article
- Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia.Science translational medicine · 2021Article
- Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.Saudi medical journal · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of the PCC enzyme are encoded by the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.