Associated Papers
Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.
Nguyen YTM et al.
Scientific Reports, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.
Cappuccio G et al.
Jimd Reports, 2017
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
de Keyzer Y et al.
Pediatric Research, 2009
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