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653 related items for PubMed ID: 32087678

  • 1. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
    Mallett A, Kearey P, Cameron A, Healy H, Denaro C, Thomas M, Lee VW, Stark S, Fuller M, Hoy WE.
    BMC Nephrol; 2020 Feb 22; 21(1):58. PubMed ID: 32087678
    [Abstract] [Full Text] [Related]

  • 2. The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.
    Mallett A, Kearey PJ, Cameron A, Healy HG, Denaro C, Thomas M, Lee VW, Stark SL, Fuller M, Wang Z, Hoy WE.
    BMC Nephrol; 2022 May 04; 23(1):169. PubMed ID: 35505287
    [Abstract] [Full Text] [Related]

  • 3. [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 04; 35(2):. PubMed ID: 29582965
    [Abstract] [Full Text] [Related]

  • 4. 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 Mar 04; 16(12):e0260601. PubMed ID: 34905550
    [Abstract] [Full Text] [Related]

  • 5. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
    Stiles AR, Zhang H, Dai J, McCaw P, Beasley J, Rehder C, Koeberl DD, McDonald M, Bali DS, Young SP.
    Mol Genet Metab; 2020 Jul 04; 130(3):209-214. PubMed ID: 32418857
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
    Gragnaniello V, Burlina AP, Polo G, Giuliani A, Salviati L, Duro G, Cazzorla C, Rubert L, Maines E, Germain DP, Burlina AB.
    Biomolecules; 2021 Jun 27; 11(7):. PubMed ID: 34199132
    [Abstract] [Full Text] [Related]

  • 8. Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease.
    Silva CAB, de Carvalho Barreto F, Neto OMV, Lucca LJ, Vieira FA, Gueiros APS, Boger MV, Silva AQ, Guedes FL, Israel KCP, Gordon GEM, Veloso VSP, Sevignani G, Barretto CT, Rosa MG, Pascotto RC, Ennes GS, da Silva Montenegro Malaguti Souza EM, Ribeiro MG, de Andrade LGM.
    Mol Genet Metab; 2024 Jun 27; 143(1-2):108565. PubMed ID: 39182416
    [Abstract] [Full Text] [Related]

  • 9. A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
    Talbot A, Nicholls K, Fletcher JM, Fuller M.
    Mol Genet Metab; 2017 Sep 27; 122(1-2):121-125. PubMed ID: 28847675
    [Abstract] [Full Text] [Related]

  • 10. Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy.
    Yamashita S, Saotome M, Satoh H, Kajihara J, Mochizuki Y, Mizuno K, Nobuhara M, Miyajima K, Kumazawa A, Tominaga H, Takase H, Tawarahara K, Wakahara N, Matsunaga M, Wakabayashi Y, Matsumoto Y, Terada H, Sano M, Ohtani H, Urushida T, Hayashi H, Ishii S, Maruyama H, Maekawa Y.
    Circ J; 2019 Aug 23; 83(9):1901-1907. PubMed ID: 31308318
    [Abstract] [Full Text] [Related]

  • 11. Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease.
    Olivera S, Iñiguez C, García-Fernández L, Sierra JL, Camón AM, Menao S, Torralba MÁ.
    Mult Scler Relat Disord; 2020 Feb 23; 38():101466. PubMed ID: 31715500
    [Abstract] [Full Text] [Related]

  • 12. Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.
    Alharbi FJ, Baig S, Auray-Blais C, Boutin M, Ward DG, Wheeldon N, Steed R, Dawson C, Hughes D, Geberhiwot T.
    J Inherit Metab Dis; 2018 Mar 23; 41(2):239-247. PubMed ID: 29294190
    [Abstract] [Full Text] [Related]

  • 13. Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models-Translation to Fabry disease patients.
    Kugadas A, Artoni P, Ruangsiriluk W, Zhao M, Boukharov N, Islam R, Volfson D, Derakhchan K.
    PLoS One; 2024 Mar 23; 19(5):e0304415. PubMed ID: 38820517
    [Abstract] [Full Text] [Related]

  • 14. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
    Delarosa-Rodríguez R, Santotoribio JD, Paula HA, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC.
    Clin Genet; 2021 Jun 23; 99(6):761-771. PubMed ID: 33527381
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 121(4):320-324. PubMed ID: 28663131
    [Abstract] [Full Text] [Related]

  • 16. α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.
    Baydakova GV, Ilyushkina AA, Moiseev S, Bychkov IO, Nikitina NV, Buruleva ТА, Zakharova EY.
    Clin Chim Acta; 2020 Feb 23; 501():27-32. PubMed ID: 31770509
    [Abstract] [Full Text] [Related]

  • 17. Screening of Fabry Disease of patients in renal replacement therapy in a population from Lazio (Italy).
    Marrone G, Angelico R, Di Lauro M, Sargentini E, Manzia TM, Tisone G, Mitterhofer AP, Della Morte Canosci D, Tesauro M, Di Daniele N, Noce A.
    Eur Rev Med Pharmacol Sci; 2023 Apr 23; 27(7):3134-3141. PubMed ID: 37070916
    [Abstract] [Full Text] [Related]

  • 18. Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.
    Gago MF, Azevedo O, Guimarães A, Teresa Vide A, Lamas NJ, Oliveira TG, Gaspar P, Bicho E, Miltenberger-Miltenyi G, Ferreira J, Sousa N.
    J Parkinsons Dis; 2020 Apr 23; 10(1):141-152. PubMed ID: 31594250
    [Abstract] [Full Text] [Related]

  • 19. Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study.
    Jahan S, Sarathchandran S, Akhter S, Goldblatt J, Stark S, Crawford D, Mallett A, Thomas M.
    Orphanet J Rare Dis; 2020 Jan 13; 15(1):10. PubMed ID: 31931840
    [Abstract] [Full Text] [Related]

  • 20. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
    Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.
    PLoS One; 2013 Jan 13; 8(3):e57631. PubMed ID: 23472096
    [Abstract] [Full Text] [Related]

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