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Page 1
Insights into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis.
German A, Almashanu S, de Vries L, Gil Margolis M, Halloun R, Haim A, Eyal O, Levy-Khademi F, Pivko-Levy D, Nir J, Pinhas-Hamiel O, Tenenbaum-Rakover Y. German A, et al. Among authors: almashanu s. J Clin Endocrinol Metab. 2024 Jul 15:dgae485. doi: 10.1210/clinem/dgae485. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39008607
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Pode-Shakked B, Landau YE, Shaul Lotan N, Manor J, Haham N, Kristal E, Hershkovitz E, Hazan G, Haham Y, Almashanu S, Anikster Y, Staretz-Chacham O. Pode-Shakked B, et al. Among authors: almashanu s. J Inherit Metab Dis. 2024 Sep;47(5):895-902. doi: 10.1002/jimd.12778. Epub 2024 Jul 23. J Inherit Metab Dis. 2024. PMID: 39040027
The natural course of newborns with transient congenital hypothyroidism.
Almagor T, Almashanu S, Elias-Assad G, Admoni O, Ludar H, London S, Rath S, German A, Shwartz N, Tenenbaum-Rakover Y. Almagor T, et al. Among authors: almashanu s. Endocr Connect. 2024 Nov 21;13(12):e240316. doi: 10.1530/EC-24-0316. Print 2024 Dec 1. Endocr Connect. 2024. PMID: 39413214 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: almashanu s. 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
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: almashanu s. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 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: almashanu s. 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
50 results