Center for Inherited Disorders of Energy Metabolism (CIDEM)
Publications & Posters
Publications
- Recommended Algorithm for Diagnosis of Pyruvate Dehydrogenase Complex (PDC) Deficiency
- A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency, Bedoyan et al, Journal of Inherited Metabolic Disease (2019)
- Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex deficiency, Shin et al, Mol. Genet. Metab. (2017)
- Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency, Bedoyan et al, Mol. Genet. Metab. (2017)
- Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion, Huang et al, Mol. Genet. Metab. (2017)
- Clinical and biochemical characterization of four patients with mutations in ECHS1, Ferdinandusse et al, Orphanet Journal of Rate Diseases (2015)
- Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase deficiency, Deeb et al, Mol. Genet. Metab. Reports (2014)
- Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype: DeBrosse et al, Mol. Genet. Metab. (2012)