FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136259781> ?p ?o ?g. }

• W3136259781 endingPage "281" @default.
• W3136259781 startingPage "272" @default.
• W3136259781 abstract "Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (GLA/AGAL), resulting in the lysosomal accumulation of globotriaosylceramide (Gb3). Patients with amenable GLA mutations can be treated with migalastat, an oral pharmacological chaperone increasing endogenous AGAL activity. In this prospective observational multicentre study, safety as well as cardiovascular, renal, and patient-reported outcomes and disease biomarkers were assessed after 12 and 24 months of migalastat treatment under 'real-world' conditions.A total of 54 patients (26 females) (33 of these [61.1%] pre-treated with enzyme replacement therapy) with amenable mutations were analysed. Treatment was generally safe and well tolerated. A total of 153 events per 1000 patient-years were detected. Overall left ventricular mass index decreased after 24 months (all: -7.5 ± 17.4 g/m2, P = 0.0118; females: -4.6 ± 9.1 g/m2, P = 0.0554; males: -9.9 ± 22.2 g/m2, P = 0.0699). After 24 months, females and males presented with a moderate yearly loss of estimated glomerular filtration rate (-2.6 and -4.4 mL/min/1.73 m2 per year; P = 0.0317 and P = 0.0028, respectively). FD-specific manifestations/symptoms remained stable (all P > 0.05). A total of 76.9% of females and 50% of males suffered from pain, which has not improved under treatment. FD-specific disease scores (Disease Severity Scoring System and Mainz Severity Score Index) remained stable during treatment. AGAL activities and plasma lyso-Gb3 values remained stable, although some male patients presented with increasing lyso-Gb3 levels over time.Treatment with migalastat was generally safe and resulted in most patients in an amelioration of left ventricular mass. However, due to the heterogeneity of FD phenotypes, it is advisable that the treating physician monitors the clinical response regularly." @default.
• W3136259781 created "2021-03-29" @default.
• W3136259781 creator A5004951090 @default.
• W3136259781 creator A5006012404 @default.
• W3136259781 creator A5009208394 @default.
• W3136259781 creator A5017407054 @default.
• W3136259781 creator A5021686155 @default.
• W3136259781 creator A5027230884 @default.
• W3136259781 creator A5036171193 @default.
• W3136259781 creator A5037414415 @default.
• W3136259781 creator A5040992538 @default.
• W3136259781 creator A5055219660 @default.
• W3136259781 creator A5057863019 @default.
• W3136259781 creator A5060031566 @default.
• W3136259781 creator A5062102728 @default.
• W3136259781 creator A5062983026 @default.
• W3136259781 creator A5064174795 @default.
• W3136259781 creator A5066481993 @default.
• W3136259781 creator A5067335222 @default.
• W3136259781 creator A5068420758 @default.
• W3136259781 creator A5071131089 @default.
• W3136259781 creator A5078887699 @default.
• W3136259781 creator A5078927052 @default.
• W3136259781 creator A5079734090 @default.
• W3136259781 creator A5085133446 @default.
• W3136259781 creator A5086964844 @default.
• W3136259781 creator A5005387361 @default.
• W3136259781 creator A5089203893 @default.
• W3136259781 date "2021-03-16" @default.
• W3136259781 modified "2023-10-18" @default.
• W3136259781 title "Treatment of Fabry Disease management with migalastat—outcome from a prospective 24 months observational multicenter study (FAMOUS)" @default.
• W3136259781 cites W1501777298 @default.
• W3136259781 cites W1790440725 @default.
• W3136259781 cites W1997440200 @default.
• W3136259781 cites W2020681444 @default.
• W3136259781 cites W2022356406 @default.
• W3136259781 cites W2044012755 @default.
• W3136259781 cites W2055558708 @default.
• W3136259781 cites W2058754026 @default.
• W3136259781 cites W2063291039 @default.
• W3136259781 cites W2073935745 @default.
• W3136259781 cites W2087366261 @default.
• W3136259781 cites W2110775478 @default.
• W3136259781 cites W2122625788 @default.
• W3136259781 cites W2125879510 @default.
• W3136259781 cites W2126269101 @default.
• W3136259781 cites W2132835404 @default.
• W3136259781 cites W2133444266 @default.
• W3136259781 cites W2139927163 @default.
• W3136259781 cites W2146877343 @default.
• W3136259781 cites W2148608243 @default.
• W3136259781 cites W2150392479 @default.
• W3136259781 cites W2161071079 @default.
• W3136259781 cites W2313827278 @default.
• W3136259781 cites W2332862830 @default.
• W3136259781 cites W2500404244 @default.
• W3136259781 cites W2523056550 @default.
• W3136259781 cites W2551668015 @default.
• W3136259781 cites W2789753965 @default.
• W3136259781 cites W2802547448 @default.
• W3136259781 cites W2903348115 @default.
• W3136259781 cites W2939009664 @default.
• W3136259781 cites W3012104840 @default.
• W3136259781 cites W3042077244 @default.
• W3136259781 cites W3049003068 @default.
• W3136259781 doi "https://doi.org/10.1093/ehjcvp/pvab025" @default.
• W3136259781 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35512362" @default.
• W3136259781 hasPublicationYear "2021" @default.
• W3136259781 type Work @default.
• W3136259781 sameAs 3136259781 @default.
• W3136259781 citedByCount "25" @default.
• W3136259781 countsByYear W31362597812021 @default.
• W3136259781 countsByYear W31362597812022 @default.
• W3136259781 countsByYear W31362597812023 @default.
• W3136259781 crossrefType "journal-article" @default.
• W3136259781 hasAuthorship W3136259781A5004951090 @default.
• W3136259781 hasAuthorship W3136259781A5005387361 @default.
• W3136259781 hasAuthorship W3136259781A5006012404 @default.
• W3136259781 hasAuthorship W3136259781A5009208394 @default.
• W3136259781 hasAuthorship W3136259781A5017407054 @default.
• W3136259781 hasAuthorship W3136259781A5021686155 @default.
• W3136259781 hasAuthorship W3136259781A5027230884 @default.
• W3136259781 hasAuthorship W3136259781A5036171193 @default.
• W3136259781 hasAuthorship W3136259781A5037414415 @default.
• W3136259781 hasAuthorship W3136259781A5040992538 @default.
• W3136259781 hasAuthorship W3136259781A5055219660 @default.
• W3136259781 hasAuthorship W3136259781A5057863019 @default.
• W3136259781 hasAuthorship W3136259781A5060031566 @default.
• W3136259781 hasAuthorship W3136259781A5062102728 @default.
• W3136259781 hasAuthorship W3136259781A5062983026 @default.
• W3136259781 hasAuthorship W3136259781A5064174795 @default.
• W3136259781 hasAuthorship W3136259781A5066481993 @default.
• W3136259781 hasAuthorship W3136259781A5067335222 @default.
• W3136259781 hasAuthorship W3136259781A5068420758 @default.
• W3136259781 hasAuthorship W3136259781A5071131089 @default.
• W3136259781 hasAuthorship W3136259781A5078887699 @default.
• W3136259781 hasAuthorship W3136259781A5078927052 @default.
• W3136259781 hasAuthorship W3136259781A5079734090 @default.

• next