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Journal Abstract Search

218 related items for PubMed ID: 32246457

  • 21. Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
    De Brabander I, Yperzeele L, Ceuterick-De Groote C, Brouns R, Baker R, Belachew S, Delbecq J, De Keulenaer G, Dethy S, Eyskens F, Fumal A, Hemelsoet D, Hughes D, Jeangette S, Nuytten D, Redondo P, Sadzot B, Sindic C, Sheorajpanday R, Thijs V, Van Broeckhoven C, De Deyn PP.
    Clin Neurol Neurosurg; 2013 Jul; 115(7):1088-93. PubMed ID: 23219219
    [Abstract] [Full Text] [Related]

  • 22. 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; 41(2):239-247. PubMed ID: 29294190
    [Abstract] [Full Text] [Related]

  • 23. D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?
    Vicente R, Santos I, Coimbra M, Santos J, Santos R, Amoedo M, Pires C.
    Nefrologia (Engl Ed); 2023 Mar; 43(5):636-639. PubMed ID: 36517364
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
    Hasholt L, Ballegaard M, Bundgaard H, Christiansen M, Law I, Lund AM, Norremolle A, Krogh Rasmussen A, Ravn K, Tumer Z, Wibrand F, Feldt-Rasmussen U.
    Scand J Clin Lab Invest; 2017 Dec 20; 77(8):617-621. PubMed ID: 29037082
    [Abstract] [Full Text] [Related]

  • 26. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
    Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P.
    Int J Mol Sci; 2018 Nov 23; 19(12):. PubMed ID: 30477121
    [Abstract] [Full Text] [Related]

  • 27. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
    Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.
    Hum Mutat; 2016 Jan 23; 37(1):43-51. PubMed ID: 26415523
    [Abstract] [Full Text] [Related]

  • 28. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
    Nowak A, Mechtler TP, Hornemann T, Gawinecka J, Theswet E, Hilz MJ, Kasper DC.
    Mol Genet Metab; 2018 Feb 23; 123(2):148-153. PubMed ID: 28728877
    [Abstract] [Full Text] [Related]

  • 29. 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
    [Abstract] [Full Text] [Related]

  • 30. Restoration of peripheral neuropathy in Fabry mice via intrathecal administration of an adeno-associated virus vector encoding mGLA cDNA.
    Higuchi T, Shimada Y, Takahashi Y, Kato F, Ohashi T, Kobayashi H.
    Mol Genet Metab; 2024 May 04; 143(1-2):108545. PubMed ID: 39068683
    [Abstract] [Full Text] [Related]

  • 31. Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.
    Nowak A, Mechtler TP, Desnick RJ, Kasper DC.
    Mol Genet Metab; 2017 May 04; 120(1-2):57-61. PubMed ID: 27773586
    [Abstract] [Full Text] [Related]

  • 32. Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.
    Namdar M, Gebhard C, Studiger R, Shi Y, Mocharla P, Schmied C, Brugada P, Lüscher TF, Camici GG.
    PLoS One; 2012 May 04; 7(4):e36373. PubMed ID: 22558451
    [Abstract] [Full Text] [Related]

  • 33. 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 04; 16(6):e004252. PubMed ID: 38047356
    [Abstract] [Full Text] [Related]

  • 34. Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
    Lenders M, Stappers F, Niemietz C, Schmitz B, Boutin M, Ballmaier PJ, Zibert A, Schmidt H, Brand SM, Auray-Blais C, Brand E.
    J Med Genet; 2019 Aug 04; 56(8):548-556. PubMed ID: 31010832
    [Abstract] [Full Text] [Related]

  • 35. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.
    van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE.
    J Med Genet; 2014 Jan 04; 51(1):1-9. PubMed ID: 23922385
    [Abstract] [Full Text] [Related]

  • 36. 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 04; 122(1-2):121-125. PubMed ID: 28847675
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.
    Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L.
    J Am Heart Assoc; 2014 Feb 04; 3(1):e000394. PubMed ID: 24496231
    [Abstract] [Full Text] [Related]

  • 39. Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.
    Varela P, Carvalho G, Martin RP, Pesquero JB.
    Metab Brain Dis; 2021 Feb 04; 36(2):265-272. PubMed ID: 33156427
    [Abstract] [Full Text] [Related]

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