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545 results

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Page 1
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Chorin O, Greenbaum L, Lev-Hochberg S, Feinstein-Goren N, Eliyahu A, Shani H, Pras E, Weissbach T, Bolkier Y, Heimer G, Lev D, Michelson M, Regev M, Josefsberg S, Batzir NA, Shalata A, Spiegel R, Segel R, Lobel O, Abu-Libdeh B, Shohat M, Frydman M, Hady-Cohen R, Pode-Shakked B, Rein-Rothschild A. Chorin O, et al. Among authors: spiegel r. Orphanet J Rare Dis. 2025 Mar 18;20(1):132. doi: 10.1186/s13023-025-03598-3. Orphanet J Rare Dis. 2025. PMID: 40102980 Free PMC article.
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rock R, Rock O, Daas S, Biton-Regev V, Sagiv N, Salah NA, Anikster Y, Barel O, Cohen RH, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Herskovitz E, Josefsberg S, Khammash H, Kneller K, Korman SH, Landau YE, Lerman-Sagie T, Mandel H, Pras E, Reznik-Wolf H, Shaag A, Lotan NS, Spiegel R, Tal G, Staretz-Chacham O, Wilnai Y, Almashanu S. Rock R, et al. Among authors: spiegel r. J Inherit Metab Dis. 2025 Jan;48(1):e12800. doi: 10.1002/jimd.12800. Epub 2024 Sep 24. J Inherit Metab Dis. 2025. PMID: 39318119
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial.
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, Murray B, Hurst B, Liu B, Kjems L, Hrynkow S. Sharma R, et al. Among authors: spiegel r. Mol Genet Metab Rep. 2023 Jun 29;36:100988. doi: 10.1016/j.ymgmr.2023.100988. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670901 Free PMC article.
Consciousness in deep hypothermic circulatory arrest: a feasibility study.
Ross J, Jan T, Smith D, Gonzales A, Galloway A, Leontovich N, Keshavarz T, Dickinson A, Friedman D, Koopman E, Huppert E, Jaffe I, Burke C, Kern J, Stelzer P, Sabe A, Spiegel R, Klein A, Rajagopal A, Parr G, Deakin C, Parnia S. Ross J, et al. Among authors: spiegel r. J Cardiothorac Surg. 2025 May 27;20(1):242. doi: 10.1186/s13019-025-03484-w. J Cardiothorac Surg. 2025. PMID: 40426216 Free PMC article.
545 results