Orly Elpeleg
Metabolic Disease Unit
Shaare-Zedek Medical Center
Jerusalem
Israel
Name/email consistency: high
- Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S., Pagnamenta, A., Eshhar, S., Saada, A. Am. J. Hum. Genet. (2005)
- Inherited mitochondrial DNA depletion. Elpeleg, O. Pediatr. Res. (2003)
- Depletion of the other genome-mitochondrial DNA depletion syndromes in humans. Elpeleg, O., Mandel, H., Saada, A. J. Mol. Med. (2002)
- N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Elpeleg, O., Shaag, A., Ben-Shalom, E., Schmid, T., Bachmann, C. Ann. Neurol. (2002)
- Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency. Elpeleg, N., Korman, S.H. J. Inherit. Metab. Dis. (2001)