Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H et al.
Orphanet Journal of Rare Diseases, 2020
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Ferriero R et al.
Annals of Clinical and Translational Neurology, 2014
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Tajir M et al.
European Journal of Medical Genetics, 2012
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
Miné M et al.
Molecular Genetics and Metabolism, 0
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