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Page 1
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.
Katz S, Landau Y, Pode-Shakked B, Pessach IM, Rubinshtein M, Anikster Y, Salem Y, Paret G. Katz S, et al. Among authors: anikster y. Mol Genet Metab Rep. 2016 Dec 8;10:5-7. doi: 10.1016/j.ymgmr.2016.11.008. eCollection 2017 Mar. Mol Genet Metab Rep. 2016. PMID: 27995075 Free PMC article.
McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Haimi Cohen Y, Shalva N, Markus-Eidlitz T, Sadeh M, Dabby R, Weintraub Y, Pode-Shakked B, Zeharia A, Anikster Y. Haimi Cohen Y, et al. Among authors: anikster y. Mol Genet Metab. 2012 Jul;106(3):379-81. doi: 10.1016/j.ymgme.2012.04.012. Epub 2012 Apr 23. Mol Genet Metab. 2012. PMID: 22608882
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG. Lasry I, et al. Among authors: anikster y. J Biol Chem. 2012 Aug 24;287(35):29348-61. doi: 10.1074/jbc.M112.368159. Epub 2012 Jun 25. J Biol Chem. 2012. PMID: 22733820 Free PMC article. Clinical Trial.
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Among authors: anikster y. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.
Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y. Pode-Shakked B, et al. Among authors: anikster y. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114. J Pediatr Gastroenterol Nutr. 2014. PMID: 24048166
Costeff syndrome: clinical features and natural history.
Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S. Yahalom G, et al. Among authors: anikster y. J Neurol. 2014 Dec;261(12):2275-82. doi: 10.1007/s00415-014-7481-x. Epub 2014 Sep 9. J Neurol. 2014. PMID: 25201222
206 results