Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Chao YH et al.
Human Molecular Genetics, 2016
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.
Ah Mew N et al.
Pediatric Neurology, 2011
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