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Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
Pode-Shakked N, Blau A, Pode-Shakked B, Tiosano D, Weintrob N, Eyal O, Zung A, Levy-Khademi F, Tenenbaum-Rakover Y, Zangen D, Gillis D, Pinhas-Hamiel O, Loewenthal N, de Vries L, Landau Z, Rachmiel M, Abu-Libdeh A, Eliakim A, Strich D, Koren I, German A, Sack J, Almashanu S. Pode-Shakked N, et al. Among authors: almashanu s. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3172-3180. doi: 10.1210/jc.2018-02468. J Clin Endocrinol Metab. 2019. PMID: 30865229
Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S. Tenenbaum-Rakover Y, et al. Among authors: almashanu s. Thyroid. 2015 Mar;25(3):292-9. doi: 10.1089/thy.2014.0311. Epub 2015 Jan 28. Thyroid. 2015. PMID: 25557138 Free PMC article.
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: almashanu 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: almashanu 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
Thyroid function tests in newborns of mothers with hypothyroidism.
Haim A, Wainstock T, Almashanu S, Loewenthal N, Sheiner E, Hershkovitz E, Landau D. Haim A, et al. Among authors: almashanu s. Eur J Pediatr. 2021 Feb;180(2):519-525. doi: 10.1007/s00431-020-03895-y. Epub 2021 Jan 6. Eur J Pediatr. 2021. PMID: 33404896
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