Svetlana Bizjajeva

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We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3](More)
BACKGROUND Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. METHODS This was a retrospective analysis of(More)
BACKGROUND Ocular signs of Fabry disease can be seen in the first decade of life. METHODS We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index(More)
In this paper we cast the idea of antithetic sampling, widely used in standard Monte Carlo simulation, into the framework of sequential Monte Carlo methods. A version of the standard auxiliary particle filter (Pitt and Shephard, 1999) is proposed where the particles are mutated blockwise in such a way that all particles within each block are, firstly,(More)
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