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536 results

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Page 1
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
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Grünert SC, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, Corpeleijn W, Çıki K, Cotter M, Crushell E, Derks TGJ, Haas D, Kilavuz S, Kingma SDK, Korman SH, Kozek A, de Laet C, Mundy H, Nassogne MC, Quintero V, Rossi A, Spenger J, Spiegel R, Stephenne X, Stojkov D, Tal G, Veiga-da Cunha M, Wortmann SB. Grünert SC, et al. Among authors: spiegel r. Mol Genet Metab. 2024 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Epub 2024 Apr 27. Mol Genet Metab. 2024. PMID: 38733639
Phase Ib Study of Unesbulin (PTC596) Plus Dacarbazine for the Treatment of Locally Recurrent, Unresectable or Metastatic, Relapsed or Refractory Leiomyosarcoma.
Van Tine BA, Ingham MA, Attia S, Meyer CF, Baird JD, Brooks-Asplund E, D'Silva D, Kong R, Mwatha A, O'Keefe K, Weetall M, Spiegel R, Schwartz GK. Van Tine BA, et al. Among authors: spiegel r. J Clin Oncol. 2024 Jul 10;42(20):2404-2414. doi: 10.1200/JCO.23.01684. Epub 2024 Apr 29. J Clin Oncol. 2024. PMID: 38684039 Free PMC article. Clinical Trial.
536 results