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274 results
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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Saada A, et al. Among authors: elpeleg o. Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751. Nat Genet. 2001. PMID: 11687801
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Elpeleg ON, Havkin S, Barash V, Jakobs C, Glick B, Shalev RS. Elpeleg ON, et al. J Pediatr. 1992 Sep;121(3):407-10. doi: 10.1016/s0022-3476(05)81796-2. J Pediatr. 1992. PMID: 1517917
Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.
Hurvitz H, Elpeleg ON, Barash V, Kerem E, Reifen RM, Ruitenbeek W, Mor C, Branski D. Hurvitz H, et al. Among authors: elpeleg on. Eur J Pediatr. 1989 Oct;149(1):48-51. doi: 10.1007/BF02024334. Eur J Pediatr. 1989. PMID: 2606128
Mitochondrial myopathy, Fanconi syndrome with impaired glycogen and galactose metabolism.
Hurvitz H, Kerem E, Elpeleg ON, Barash V, Klar A, Mor C, Branski D. Hurvitz H, et al. Among authors: elpeleg on. Prog Clin Biol Res. 1989;306:143-8. Prog Clin Biol Res. 1989. PMID: 2740408 No abstract available.
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
Elpeleg ON, Shaag A, Anikster Y, Jakobs C. Elpeleg ON, et al. J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008. J Inherit Metab Dis. 1994. PMID: 7707689
The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A. Elpeleg ON, et al. Am J Hum Genet. 1994 Aug;55(2):287-8. Am J Hum Genet. 1994. PMID: 8037206 Free PMC article.
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON. Anikster Y, et al. Among authors: elpeleg on. Am J Hum Genet. 1996 Nov;59(5):1012-8. Am J Hum Genet. 1996. PMID: 8900228 Free PMC article.
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, Halevy J. Elpeleg ON, et al. Muscle Nerve. 1997 Feb;20(2):238-40. doi: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z. Muscle Nerve. 1997. PMID: 9040667 No abstract available.
Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON. Shaag A, et al. Among authors: elpeleg on. Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9. doi: 10.1006/bbrc.1997.6496. Biochem Biophys Res Commun. 1997. PMID: 9168904
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A. Elpeleg ON, et al. Hum Mutat. 1997;10(3):256-7. doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9298831 No abstract available.
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