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Page 1
Acute Normoglycemic Ketoacidosis.
Dumin E, Idin A, Korman SH, Tal G. Dumin E, et al. Among authors: tal g. Clin Chem. 2019 Dec;65(12):1610-1612. doi: 10.1373/clinchem.2019.309062. Clin Chem. 2019. PMID: 31776163 No abstract available.
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: tal g. 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
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW; Regeneron Genetics Center; Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: tal g. Mol Genet Metab Rep. 2020 Dec 30;26:100699. doi: 10.1016/j.ymgmr.2020.100699. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33457206 Free PMC article.
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. Among authors: tal g. 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: tal g. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
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: tal g. 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
59 results