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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: mandel h. 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.
Concomitant congenital CMV infection and inherited liver diseases.
Swed-Tobia R, Kassis I, Weiss K, Tal G, Shaoul R, Falik-Zaccai TC, Mandel H, Meir M. Swed-Tobia R, et al. Among authors: mandel h. Eur J Med Genet. 2021 Aug;64(8):104249. doi: 10.1016/j.ejmg.2021.104249. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34023521
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN. Kurolap A, et al. Among authors: mandel h. Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773429 Free PMC article.
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: mandel d, mandel h. 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
400 results