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case western reserve university

Center for Inherited Disorders of Energy Metabolism

 

Publications

 

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)

 

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)