These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

305 related items for PubMed ID: 31010832

  • 21. Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
    Welford RWD, Mühlemann A, Garzotti M, Rickert V, Groenen PMA, Morand O, Üçeyler N, Probst MR.
    Hum Mol Genet; 2018 Oct 01; 27(19):3392-3403. PubMed ID: 29982630
    [Abstract] [Full Text] [Related]

  • 22. Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
    Rombach SM, Aerts JM, Poorthuis BJ, Groener JE, Donker-Koopman W, Hendriks E, Mirzaian M, Kuiper S, Wijburg FA, Hollak CE, Linthorst GE.
    PLoS One; 2012 Oct 01; 7(10):e47805. PubMed ID: 23094092
    [Abstract] [Full Text] [Related]

  • 23. Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
    Lukas J, Cimmaruta C, Liguori L, Pantoom S, Iwanov K, Petters J, Hund C, Bunschkowski M, Hermann A, Cubellis MV, Rolfs A.
    Int J Mol Sci; 2020 Jan 31; 21(3):. PubMed ID: 32023956
    [Abstract] [Full Text] [Related]

  • 24. The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.
    Besada P, Gallardo-Gómez M, Pérez-Márquez T, Patiño-Álvarez L, Pantano S, Silva-López C, Terán C, Arévalo-Gómez A, Ruz-Zafra A, Fernández-Martín J, Ortolano S.
    Biomolecules; 2021 Dec 10; 11(12):. PubMed ID: 34944500
    [Abstract] [Full Text] [Related]

  • 25. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.
    Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ.
    Biochim Biophys Acta; 2004 Nov 05; 1690(3):250-7. PubMed ID: 15511632
    [Abstract] [Full Text] [Related]

  • 26. LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.
    Kuchar L, Berna L, Poupetova H, Ledvinova J, Ruzicka P, Dostalova G, Reichmannova S, Asfaw B, Linhart A, Sikora J.
    Clin Chim Acta; 2024 Jul 15; 561():119824. PubMed ID: 38906396
    [Abstract] [Full Text] [Related]

  • 27. Fabry disease Enzyme Enhancement on migalastat Study: FEES.
    Kugan M, D'Amore S, Mitra-Royhurst U, Patel S, Burke D, Heales S, Ramaswami U.
    Clin Chim Acta; 2024 Jul 15; 561():119843. PubMed ID: 38964569
    [Abstract] [Full Text] [Related]

  • 28. Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
    Effraimidis G, Feldt-Rasmussen U, Rasmussen ÅK, Lavoie P, Abaoui M, Boutin M, Auray-Blais C.
    J Med Genet; 2021 Oct 15; 58(10):692-700. PubMed ID: 32963035
    [Abstract] [Full Text] [Related]

  • 29. Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data.
    Riccio E, Zanfardino M, Ferreri L, Santoro C, Cocozza S, Capuano I, Imbriaco M, Feriozzi S, Pisani A, AFFIINITY Group.
    Eur J Hum Genet; 2020 Dec 15; 28(12):1662-1668. PubMed ID: 32647377
    [Abstract] [Full Text] [Related]

  • 30. Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients.
    Shiga T, Tsukimura T, Kubota T, Togawa T, Sakuraba H.
    Intern Med; 2024 Jun 01; 63(11):1531-1537. PubMed ID: 37866916
    [Abstract] [Full Text] [Related]

  • 31. Genetics and Gene Therapy of Anderson-Fabry Disease.
    Simonetta I, Tuttolomondo A, Di Chiara T, Miceli S, Vogiatzis D, Corpora F, Pinto A.
    Curr Gene Ther; 2018 Jun 01; 18(2):96-106. PubMed ID: 29618309
    [Abstract] [Full Text] [Related]

  • 32. 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 Jun 01; 19(5):e0304415. PubMed ID: 38820517
    [Abstract] [Full Text] [Related]

  • 33. Precision medicine in Fabry disease.
    Lenders M, Brand E.
    Nephrol Dial Transplant; 2021 Jun 22; 36(Suppl 2):14-23. PubMed ID: 34153986
    [Abstract] [Full Text] [Related]

  • 34. Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.
    Hennermann JB, Arash-Kaps L, Fekete G, Schaaf A, Busch A, Frischmuth T.
    J Inherit Metab Dis; 2019 May 22; 42(3):527-533. PubMed ID: 30746723
    [Abstract] [Full Text] [Related]

  • 35. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.
    Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S.
    J Biochem; 2011 Feb 22; 149(2):161-70. PubMed ID: 20961863
    [Abstract] [Full Text] [Related]

  • 36. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
    Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.
    Orphanet J Rare Dis; 2018 Apr 27; 13(1):68. PubMed ID: 29703262
    [Abstract] [Full Text] [Related]

  • 37. Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.
    Fekete N, Li LK, Kozma GT, Fekete G, Pállinger É, Kovács ÁF.
    Cells; 2024 Apr 19; 13(8):. PubMed ID: 38667321
    [Abstract] [Full Text] [Related]

  • 38. Developments in the treatment of Fabry disease.
    van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M.
    J Inherit Metab Dis; 2020 Sep 19; 43(5):908-921. PubMed ID: 32083331
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. 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 20; 130(3):209-214. PubMed ID: 32418857
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 16.