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Page 1
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: daas s. 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 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: daas s. 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
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Lev A, Sharir I, Simon AJ, Levy S, Lee YN, Frizinsky S, Daas S, Saraf-Levy T, Broides A, Nahum A, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Stein J, Adam E, Hendel A, Marcus N, Almashanu S, Somech R. Lev A, et al. Among authors: daas s. J Allergy Clin Immunol Pract. 2022 Oct;10(10):2722-2731.e9. doi: 10.1016/j.jaip.2022.04.013. Epub 2022 Apr 26. J Allergy Clin Immunol Pract. 2022. PMID: 35487367
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: daas s. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
A Modified Dynamic Fixation Technique for Acute Syndesmotic Injuries.
Bouaicha W, Jlidi M, Sbaihi S, Gharbi MH, Mallek K, Jaziri S, Daas S. Bouaicha W, et al. Among authors: daas s. Foot Ankle Orthop. 2024 Feb 28;9(1):24730114241232979. doi: 10.1177/24730114241232979. eCollection 2024 Jan. Foot Ankle Orthop. 2024. PMID: 38426008 Free PMC article. No abstract available.
59 results