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A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Bercovich D, Elimelech A, Yardeni T, Korem S, Zlotogora J, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. Bercovich D, et al. Among authors: schwartz g. Ann Hum Genet. 2008 May;72(Pt 3):305-9. doi: 10.1111/j.1469-1809.2007.00425.x. Epub 2008 Feb 19. Ann Hum Genet. 2008. PMID: 18294361
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Anikster Y, et al. Among authors: schwartz g. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132689 Free PMC article.
Peak bone mass in patients with phenylketonuria.
Modan-Moses D, Vered I, Schwartz G, Anikster Y, Abraham S, Segev R, Efrati O. Modan-Moses D, et al. Among authors: schwartz g. J Inherit Metab Dis. 2007 Apr;30(2):202-8. doi: 10.1007/s10545-007-0462-9. Epub 2007 Mar 8. J Inherit Metab Dis. 2007. PMID: 17347917
Origins of hyperphenylalaninemia in Israel.
Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith RC, Brand N, Schwartz G, Rey F, Munnich A, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: schwartz g. Eur J Hum Genet. 1994;2(1):24-34. doi: 10.1159/000472338. Eur J Hum Genet. 1994. PMID: 7913865
2,374 results