Associated Papers
Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.
Hajati R et al.
Bmc Medical Genomics, 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort.
Passantino S et al.
Diagnostics (basel, Switzerland), 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Dietary management and growth outcomes in children with propionic acidemia: A natural history study.
Saleemani H et al.
Jimd Reports, 2021
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Long term follow-up of the dietary intake in propionic acidemia.
Mobarak A et al.
Molecular Genetics and Metabolism Reports, 2021
SARS-CoV-2 infection in a patient with propionic acidemia.
Caciotti A et al.
Orphanet Journal of Rare Diseases, 2020
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA et al.
Journal of Inherited Metabolic Disease, 2020
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Al-Hamed MH et al.
Molecular Genetics and Metabolism Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Kör D et al.
The Turkish Journal of Pediatrics, 2019
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Sánchez-Alcudia R et al.
Human Mutation, 2012
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].
Brosch S et al.
Hno, 2008