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Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK, Karaca M, Kilic M, Kucuk O, Yucel-Yilmaz D, Unal O, Hismi B, Aliefendioglu D, Sivri S, Tokatli A, Coskun T, Dursun A. Ozgul RK, et al. Among authors: yucel yilmaz d. Eur J Med Genet. 2014 Oct;57(10):596-601. doi: 10.1016/j.ejmg.2014.08.006. Epub 2014 Sep 8. Eur J Med Genet. 2014. PMID: 25220015
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
Kılıç M, Dursun A, Coşkun T, Tokatlı A, Özgül RK, Yücel-Yılmaz D, Karaca M, Doğru D, Alehan D, Kadayıfçılar S, Genç A, Turan-Dizdar H, Gönüldaş B, Savcı S, Sağlam M, Aksoy C, Arslan U, Sivri HS. Kılıç M, et al. Among authors: yucel yilmaz d. Am J Med Genet A. 2017 Nov;173(11):2954-2967. doi: 10.1002/ajmg.a.38459. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884960
16 results