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Journal Abstract Search

126 related items for PubMed ID: 38047356

  • 1. Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
    Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, Germain DP, Scarpa M, Biagini E, Pieroni M, Elliott PM, Limongelli G.
    Circ Genom Precis Med; 2023 Dec; 16(6):e004252. PubMed ID: 38047356
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  • 3. The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.
    Savostyanov K, Pushkov A, Zhanin I, Mazanova N, Trufanov S, Pakhomov A, Alexeeva A, Sladkov D, Asanov A, Fisenko A.
    Orphanet J Rare Dis; 2022 May 16; 17(1):199. PubMed ID: 35578305
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  • 5. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
    Rosa Neto NS, Bento JCB, Pereira RMR.
    Adv Rheumatol; 2020 Jan 06; 60(1):7. PubMed ID: 31907047
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  • 6. Nationwide screening for Fabry disease in unselected stroke patients.
    Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A, National Stroke Research Network, part of Czech Clinical Research Infrastructure Network (CZECRIN) and Czech Neurological Society, Cerebrovascular Section.
    PLoS One; 2021 Jan 06; 16(12):e0260601. PubMed ID: 34905550
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  • 7. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.
    Terryn W, Deschoenmakere G, De Keyser J, Meersseman W, Van Biesen W, Wuyts B, Hemelsoet D, Pascale H, De Backer J, De Paepe A, Poppe B, Vanholder R.
    Int J Cardiol; 2013 Sep 10; 167(6):2555-60. PubMed ID: 22805550
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  • 11. Fabry disease due to D313Y and novel GLA mutations.
    Koulousios K, Stylianou K, Pateinakis P, Zamanakou M, Loules G, Manou E, Kyriklidou P, Katsinas C, Ouzouni A, Kyriazis J, Speletas M, Germenis AE.
    BMJ Open; 2017 Oct 06; 7(10):e017098. PubMed ID: 28988177
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  • 13. Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
    Lenders M, Weidemann F, Kurschat C, Canaan-Kühl S, Duning T, Stypmann J, Schmitz B, Reiermann S, Krämer J, Blaschke D, Wanner C, Brand SM, Brand E.
    Orphanet J Rare Dis; 2016 May 04; 11(1):54. PubMed ID: 27142856
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  • 15. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
    Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE.
    Int J Cardiol; 2014 Dec 15; 177(2):400-8. PubMed ID: 25442977
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  • 17. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
    Monserrat L, Gimeno-Blanes JR, Marín F, Hermida-Prieto M, García-Honrubia A, Pérez I, Fernández X, de Nicolas R, de la Morena G, Payá E, Yagüe J, Egido J.
    J Am Coll Cardiol; 2007 Dec 18; 50(25):2399-403. PubMed ID: 18154965
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  • 18. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
    Csányi B, Hategan L, Nagy V, Obál I, Varga ET, Borbás J, Tringer A, Eichler S, Forster T, Rolfs A, Sepp R.
    Int Heart J; 2017 May 31; 58(3):454-458. PubMed ID: 28496025
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  • 19. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
    Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP.
    Eur J Med Genet; 2020 Feb 31; 63(2):103703. PubMed ID: 31200018
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