Associated Papers
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J et al.
Brain : a Journal of Neurology, 2025
40120092 (PubMed )
Supplement: awaf109_supplementary_data.zip › brain-2024-02790-File009.pdf
Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.
Edgardo AT et al.
Jacc. Case Reports, 2025
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.
Li Y et al.
Bmc Medical Genomics, 2022
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Herkert JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.
Laemmle A et al.
European Journal of Pediatrics, 2014
Unusual presentation of propionic acidaemia as isolated cardiomyopathy.
Lee TM et al.
Journal of Inherited Metabolic Disease, 2009
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