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Page 1
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
JIMD Rep. 2016;25:15-19. doi: 10.1007/8904_2015_462. Epub 2015 Jul 5.
JIMD Rep. 2016.
PMID: 26141459
Free PMC article.
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE.
Sremba LJ, et al. Among authors: elbalalesy nm.
Mol Genet Metab Rep. 2014 Aug 28;1:368-372. doi: 10.1016/j.ymgmr.2014.07.008. eCollection 2014.
Mol Genet Metab Rep. 2014.
PMID: 27896110
Free PMC article.
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A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL.
Staropoli JF, et al. Among authors: elbalalesy n.
Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28.
Am J Hum Genet. 2012.
PMID: 22748208
Free PMC article.
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