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54 results

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Page 1
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: landau y. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319
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: landau 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.
Reversal of cystoid macular edema in gyrate atrophy patients.
Heller D, Weiner C, Nasie I, Anikster Y, Landau Y, Koren T, Pokroy R, Abulafia A, Pras E. Heller D, et al. Among authors: landau y. Ophthalmic Genet. 2017 Dec;38(6):549-554. doi: 10.1080/13816810.2017.1301966. Epub 2017 Apr 7. Ophthalmic Genet. 2017. PMID: 28388263
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Among authors: landau ye. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y. Pode-Shakked N, et al. Among authors: landau y. Eur J Med Genet. 2020 Jun;63(6):103901. doi: 10.1016/j.ejmg.2020.103901. Epub 2020 Mar 6. Eur J Med Genet. 2020. PMID: 32151765
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Kristal E, Pode-Shakked B, Hazan G, Banne E, Ling G, David O, Shany E, Raas-Rothschild A, Anikster Y, Kneller K, Hershkovitz E, Landau YE, Spiegel R, Zehavi Y, Staretz-Chacham O. Kristal E, et al. Among authors: landau ye. Orphanet J Rare Dis. 2021 Sep 8;16(1):379. doi: 10.1186/s13023-021-02007-9. Orphanet J Rare Dis. 2021. PMID: 34496908 Free PMC article.
54 results