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    Results: 1 to 20 of 50

    1.

    Enzyme replacement therapy for Anderson-Fabry disease.

    El Dib RP, Nascimento P, Pastores GM.

    Cochrane Database Syst Rev. 2013 Feb 28;2:CD006663. doi: 10.1002/14651858.CD006663.pub3. Review.

    PMID:
    23450571
    [PubMed - indexed for MEDLINE]
    2.

    Anderson-Fabry disease: developments in diagnosis and treatment.

    Kes VB, Cesarik M, Zavoreo I, Madzar Z, Demarin V.

    Acta Clin Croat. 2012 Sep;51(3):411-7. Review.

    PMID:
    23330407
    [PubMed - indexed for MEDLINE]
    3.

    Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.

    Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Böttcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B; Stroke in Young Fabry Patients (sifap) Investigators.

    Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10.

    PMID:
    23306324
    [PubMed - indexed for MEDLINE]
    4.

    Agalsidase benefits renal histology in young patients with Fabry disease.

    Tøndel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E.

    J Am Soc Nephrol. 2013 Jan;24(1):137-48. doi: 10.1681/ASN.2012030316.

    PMID:
    23274955
    [PubMed - indexed for MEDLINE]
    5.

    Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.

    Gold H, Mirzaian M, Dekker N, Joao Ferraz M, Lugtenburg J, Codée JD, van der Marel GA, Overkleeft HS, Linthorst GE, Groener JE, Aerts JM, Poorthuis BJ.

    Clin Chem. 2013 Mar;59(3):547-56. doi: 10.1373/clinchem.2012.192138. Epub 2012 Dec 12.

    PMID:
    23237761
    [PubMed - indexed for MEDLINE]
    6.

    Cognitive testing in Fabry disease: pilot using a brief computerized assessment tool.

    Elstein D, Doniger GM, Altarescu G.

    Isr Med Assoc J. 2012 Oct;14(10):624-8.

    PMID:
    23193784
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Alpha-galactosidase A activity levels in Turkish male hemodialysis patients.

    Kalkan Uçar S, Sozmen E, Duman S, Başçi A, Çoker M.

    Ther Apher Dial. 2012 Dec;16(6):560-5. doi: 10.1111/j.1744-9987.2012.01092.x. Epub 2012 Aug 13.

    PMID:
    23190516
    [PubMed - indexed for MEDLINE]
    8.

    Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

    Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF.

    Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91.

    PMID:
    23176611
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Lifestyle risk factors for ischemic stroke and transient ischemic attack in young adults in the Stroke in Young Fabry Patients study.

    von Sarnowski B, Putaala J, Grittner U, Gaertner B, Schminke U, Curtze S, Huber R, Tanislav C, Lichy C, Demarin V, Basic-Kes V, Ringelstein EB, Neumann-Haefelin T, Enzinger C, Fazekas F, Rothwell PM, Dichgans M, Jungehulsing GJ, Heuschmann PU, Kaps M, Norrving B, Rolfs A, Kessler C, Tatlisumak T; sifap1 Investigators.

    Stroke. 2013 Jan;44(1):119-25. doi: 10.1161/STROKEAHA.112.665190. Epub 2012 Nov 13.

    PMID:
    23150649
    [PubMed - indexed for MEDLINE]
    10.

    No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.

    Kobayashi M, Ohashi T, Fukuda T, Yanagisawa T, Inomata T, Nagaoka T, Kitagawa T, Eto Y, Ida H, Kusano E.

    Mol Genet Metab. 2012 Dec;107(4):711-5. doi: 10.1016/j.ymgme.2012.10.018. Epub 2012 Oct 24.

    PMID:
    23146289
    [PubMed - indexed for MEDLINE]
    11.

    Multicomponent nanoparticles as nonviral vectors for the treatment of Fabry disease by gene therapy.

    Ruiz de Garibay AP, Delgado D, Del Pozo-Rodríguez A, Solinís MÁ, Gascón AR.

    Drug Des Devel Ther. 2012;6:303-10. doi: 10.2147/DDDT.S36131. Epub 2012 Oct 26.

    PMID:
    23118528
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Fabry disease with atypical neurological presentation: report of a case.

    Simoncini C, Orsucci D, Gori S, Giorgi FS, Cosottini M, Siciliano G, Mancuso M.

    Neurologist. 2012 Nov;18(6):413-4. doi: 10.1097/NRL.0b013e3182761cf6.

    PMID:
    23114679
    [PubMed - indexed for MEDLINE]
    13.

    Fabry disease and immunoglobulin A nephropathy.

    Chao CT, Lin WC, Kao TW.

    Nephrology (Carlton). 2012 Nov;17(8):782-3. doi: 10.1111/j.1440-1797.2012.01594.x. No abstract available.

    PMID:
    23107127
    [PubMed - indexed for MEDLINE]
    14.

    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;7(10):e47805. doi: 10.1371/journal.pone.0047805. Epub 2012 Oct 19.

    PMID:
    23094092
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease.

    Boutin M, Gagnon R, Lavoie P, Auray-Blais C.

    Clin Chim Acta. 2012 Dec 24;414:273-80. doi: 10.1016/j.cca.2012.09.026. Epub 2012 Oct 2.

    PMID:
    23041216
    [PubMed - indexed for MEDLINE]
    16.

    Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease.

    Coats CJ, Parisi V, Ramos M, Janagarajan K, O'Mahony C, Dawnay A, Lachmann RH, Murphy E, Mehta A, Hughes D, Elliott PM.

    Am J Cardiol. 2013 Jan 1;111(1):111-7. doi: 10.1016/j.amjcard.2012.08.055. Epub 2012 Oct 4.

    PMID:
    23040658
    [PubMed - indexed for MEDLINE]
    17.

    Electrophysiological findings in Fabry cardiomyopathy: mapping the maze of risk stratification.

    Li J, Warth A, Schnabel P, Schweizer PA, Buss SJ, Steen H, Becker R, Katus HA, Thomas D.

    Acta Cardiol. 2012 Aug;67(4):481-5.

    PMID:
    22998007
    [PubMed - indexed for MEDLINE]
    18.

    Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).

    Ramaswami U, Stull DE, Parini R, Pintos-Morell G, Whybra C, Kalkum G, Rohrbach M, Raluy-Callado M, Beck M, Chen WH, Wiklund I; FOS Investigators.

    Health Qual Life Outcomes. 2012 Sep 20;10:116. doi: 10.1186/1477-7525-10-116.

    PMID:
    22992222
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

    Pisani A, Visciano B, Roux GD, Sabbatini M, Porto C, Parenti G, Imbriaco M.

    Mol Genet Metab. 2012 Nov;107(3):267-75. doi: 10.1016/j.ymgme.2012.08.003. Epub 2012 Aug 11. Review.

    PMID:
    22963910
    [PubMed - indexed for MEDLINE]
    20.

    Agalsidase alfa: a review of its use in the management of Fabry disease.

    Keating GM.

    BioDrugs. 2012 Oct 1;26(5):335-54. doi: 10.2165/11209690-000000000-00000. Review.

    PMID:
    22946754
    [PubMed - indexed for MEDLINE]

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