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Journal Abstract Search


360 related items for PubMed ID: 29582965

  • 1. [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena].
    Alfano G, Ganda N, Cerami C, Mori G, Fontana F, Cappelli G.
    G Ital Nefrol; 2018 Mar; 35(2):. PubMed ID: 29582965
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  • 7. 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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  • 12. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
    Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S.
    Genet Med; 2019 Jan 16; 21(1):44-52. PubMed ID: 29543226
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  • 14. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.
    Nowak A, Mechtler T, Kasper DC, Desnick RJ.
    Mol Genet Metab; 2017 Aug 16; 121(4):320-324. PubMed ID: 28663131
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  • 16. Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
    Ferreira S, Auray-Blais C, Boutin M, Lavoie P, Nunes JP, Martins E, Garman S, Oliveira JP.
    Clin Chim Acta; 2015 Jul 20; 447():96-104. PubMed ID: 26070511
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  • 17. Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey.
    Erdogmus S, Kutlay S, Kumru G, Ors Sendogan D, Erturk S, Keven K, Ceylaner G, Sengul S.
    Exp Clin Transplant; 2020 Aug 20; 18(4):444-449. PubMed ID: 32281532
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  • 18. Prevalence of Fabry Disease in Patients on Dialysis in France.
    Sens F, Guittard L, Knebelmann B, Moranne O, Choukroun G, de Précigout V, Couchoud C, Deleruyelle I, Lancelot L, Tran Thi Phuong L, Ghafari T, Fabrydial Study Group, Juillard L, Germain DP.
    Int J Mol Sci; 2024 Sep 20; 25(18):. PubMed ID: 39337589
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  • 19. Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.
    Effraimidis G, Rasmussen ÅK, Bundgaard H, Sørensen SS, Feldt-Rasmussen U.
    J Inherit Metab Dis; 2020 Sep 20; 43(5):922-933. PubMed ID: 32246457
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