Search Results - "A. K. Mardanova"

Organization of Medical Care and Drug Supply for Patients with Osteogenesis Imperfecta in the Republic of Bashkortostan by Bakirov, A. A., Romanova, N. I., Malievskiy, V. A., Malievskiy, O. A., Akhmetshin, R. Z., Galieva, G. M., Pervushina, E. P., Bairamgulov, F. M., Mardanova, A. K.

“…Osteogenesis imperfecta is a group of rare hereditary diseases of connective tissue, which are based on a defective collagen formation. The main focus of the…”
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Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia by Bushueva, T V, Kuzenkova, L M, Borovik, T É, Nazarenko, L P, Seitova, G N, Filimonova, M N, Pichkur, N A, Samonenko, N V, Shkurko, T A, Akhmadeeva, É N, Mardanova, A K, Garifullina, É R, Kovtun, O P, Bazhenova, Iu L, Alimova, I L, Kostiakova, E A, Minaĭcheva, L I, Saliukova, O A, Sivokha, V M, Rozenson, O L

“…Phenylketonuria (PKU) is an autosomal recessive inherited disease associated with impaired metabolism of the amino acids phenylalanine (Phe) and tyrosine. The…”
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A clinical case of adult onset Niemann–Pick disease type C by E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin

“…The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage…”
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