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  • Tag › A.P. AKOPIAN

     Hallerworden — Spatz disease (pantothenate kinase-associated neurodegeneration). Clinical case

    Редактор | 2024, Clinical case, Practical medicine part 22 №3. 2024 | 5 июля, 2024

    L.B. NOVIKOVA, R.F. LATYPOVA, K.M. SHARAPOVA, A.P. AKOPIAN  Bashkir State Medical University, Ufa Contact details: Sharapova K.M. – Ph. D. (Medicine), Associate Professor of the Department of Neurology and Neurorehabilitation Address: 3 Lenin St., Ufa, Russian Federation, tel.: +7 (347) 273-61-92, e-mail: sharapovakarina.2020@gmail.com The article presents a clinical case of a rare hereditary Hallervorden — Spatz disease with […]

    Tag: 2024, A.P. AKOPIAN, Hallervorden — Spatz disease, iron deposition, K.M. SHARAPOVA, L.B. NOVIKOVA, neurodegeneration, parkinsonism, Practical medicine part 22 №3. 2024, R.F. LATYPOVA, «tiger’s eye» symptom
    Комментарии к записи  Hallerworden — Spatz disease (pantothenate kinase-associated neurodegeneration). Clinical case отключены

     Myotubular X-linked myopathy. Clinical case

    Редактор | 2023, Clinical case, Practical medicine part 21 №2. 2023 | 18 марта, 2023

    L.B. NOVIKOVA, A.P. AKOPIAN, K.M. SHARAPOVA, R.F. LATYPOVA, N.M. FAIZULLINA  Bashkir State Medical University, Ufa  Contact details: Sharapova K.M. — PhD (medicine), Associate Professor of the Department of Neurology Address: 3 Lenin St., Ufa, Russian Federation, 450008, tel.: +7-987-035-33-59, e-mail: sharapovakarina.2020@gmail.com  Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations […]

    Tag: 2023, A.P. AKOPIAN, Children, K.M. SHARAPOVA, L.B. NOVIKOVA, muscular hypotension, myotubular myopathy, N.M. FAIZULLINA, Practical medicine part 21 №2. 2023, R.F. LATYPOVA, respiratory failure, X-linked recessive inheritance
    Комментарии к записи  Myotubular X-linked myopathy. Clinical case отключены
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