Saada A - Search Results

1

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.

Zehavi Y, Saada A, Jabaly-Habib H, Dessau M, Shaag A, Elpeleg O, Spiegel R. Zehavi Y, et al. Among authors: saada a. Metab Brain Dis. 2021 Apr;36(4):581-588. doi: 10.1007/s11011-021-00671-1. Epub 2021 Jan 20. Metab Brain Dis. 2021. PMID: 33471299 Review.

2

Lipoamide dehydrogenase activity in lymphocytes.

Berger I, Elpeleg ON, Saada A. Berger I, et al. Among authors: saada a. Clin Chim Acta. 1996 Dec 30;256(2):197-201. doi: 10.1016/s0009-8981(96)06420-0. Clin Chim Acta. 1996. PMID: 9027430

3

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. Among authors: saada ab. 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 Free article. No abstract available.

4

Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency.

Aptowitzer I, Saada A, Faber J, Kleid D, Elpeleg ON. Aptowitzer I, et al. Among authors: saada a. J Pediatr Gastroenterol Nutr. 1997 May;24(5):599-601. doi: 10.1097/00005176-199705000-00019. J Pediatr Gastroenterol Nutr. 1997. PMID: 9161958 No abstract available.

5

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: saada a. Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9. doi: 10.1006/bbrc.1997.6496. Biochem Biophys Res Commun. 1997. PMID: 9168904

6

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. Among authors: saada a. 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.

7

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON. Shaag A, et al. Among authors: saada a. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985

8

Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. Shany E, et al. Among authors: saada a. Biochem Biophys Res Commun. 1999 Aug 19;262(1):163-6. doi: 10.1006/bbrc.1999.1133. Biochem Biophys Res Commun. 1999. PMID: 10448086

9

ATP synthesis in lipoamide dehydrogenase deficiency.

Saada A, Aptowitzer I, Link G, Elpeleg ON. Saada A, et al. Biochem Biophys Res Commun. 2000 Mar 16;269(2):382-6. doi: 10.1006/bbrc.2000.2310. Biochem Biophys Res Commun. 2000. PMID: 10708561

10

Antenatal presentation of carnitine palmitoyltransferase II deficiency.

Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M. Elpeleg ON, et al. Among authors: saada a. Am J Med Genet. 2001 Aug 1;102(2):183-7. doi: 10.1002/ajmg.1457. Am J Med Genet. 2001. PMID: 11477613

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