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Publications Software 2012-2021 Open Access Article IT Nervno-Myšečnye Bolezni Archivio Istituzionale della Ricer...

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4 research outcomes, page 1 of 1
  • publication . Article . 2017
    FAbry STabilization indEX (FASTEX) : an innovative tool for the assessment of clinical stabilization in Fabry disease
    Open Access English
    Authors:
    Renzo Mignani; Federico Pieruzzi; Francesco Berri; Alessandro P. Burlina; Benito Chinea; Maurizio Gallieni; Maurizio Pieroni; Alessandro Salviati; Marco Spada;
    Persistent Identifiers

    doi: 10.1093/ckj/sfw082 , 10.17650/2222-8721-2017-7-2-37-47

    pmc: PMC5036909

    pmid: 27679722

    Publisher: Oxford University Press
    Country: Italy

    На сегодняшний день предложены 2 системы количественной оценки бремени гликогеноза с дефицитом α-галактозидазы: индекс оценки степени тяжести Майнца (MSSI) и система балльной оценки тяжести болезни Фабри (DS3). Сделана попытка разработать динамическую математическую мод...

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  • publication . Other literature type . Article . 2018
    European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: A 10-year experience
    Open Access English
    Authors:
    A.T. van der Ploeg; Michelle E. Kruijshaar; Antonio Toscano; Pascal Laforêt; Corrado Angelini; Robin H. Lachmann; S. I. Pascual Pascual; Mark Roberts; Kai Michael Rösler; Thomas M. Stulnig; ...
    Persistent Identifiers

    doi: 10.7892/boris.108201 , 10.17650/2222-8721-2018-8-4-19-34

    handle: 1765/117305 , 2078.1/220120

    Countries: Belgium, Netherlands

    Введение. Болезнь Помпе – редкое наследственное мышечное заболевание, для лечения которого с 2006 г. применяют ферментную заместительную терапию. В документе представлены последние рекомендации по началу и прекращению ферментной заместительной терапии у взрослых пациент...

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  • publication . Article . 2017
    Transcranial magnetic stimulation with electroencephalography: Methodology, applications for research and clinics
    Open Access Russian
    Authors:
    Maria Nazarova; E. D. Blagoveschenskiy; Vadim V. Nikulin; M. V. Mitina;
    Persistent Identifiers

    doi: 10.17650/2222-8721-2017-7-4-20-32

    handle: 21.11116/0000-0001-FFCD-A , 21.11116/0000-0000-8477-5

    Combined use of transcranial magnetic stimulation and electroencephalography (TMS-EEG) is a highly informative cutting edge technology which is relevant for fundamental, clinical and translational research. Unique capabilities of TMS-EEG approach allow to assess the fun...

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  • publication . Article . 2018
    Characteristics of electrophysiological activity of the cerebral cortex in children with arthrogryposis
    Open Access
    Authors:
    Blagoveschenskiy, E. D.; Agranovich, O. E.; Kononova, E. L.; Baindurashvili, A. G.; Nazarova, M. A.; Shestokova, A. N.; Gabbasova, E. L.; Nikulin, V. V.;
    Persistent Identifiers

    doi: 10.17650/2222-8721-2018-8-2-25-32

    handle: 21.11116/0000-0002-0BDA-D , 21.11116/0000-0001-AFCB-6

    Publisher: Publishing House ABV Press

    Background. Arthrogryposis is one of the most severe congenital abnormalities of the musculoskeletal system characterized by 2 or more contractures of the large joints, muscle and anterior grey column pathology. One of the main problems making selfcare limited or imposs...

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4 research outcomes, page 1 of 1