BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

405 related articles for article (PubMed ID: 24395922)

  • 1. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
    Niemann M; Rolfs A; Störk S; Bijnens B; Breunig F; Beer M; Ertl G; Wanner C; Weidemann F
    Circ Cardiovasc Genet; 2014 Feb; 7(1):8-16. PubMed ID: 24395922
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.
    Togawa T; Kawashima I; Kodama T; Tsukimura T; Suzuki T; Fukushige T; Kanekura T; Sakuraba H
    Biochem Biophys Res Commun; 2010 Sep; 399(4):716-20. PubMed ID: 20692233
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Plasma globotriaosylsphingosine as a biomarker of Fabry disease.
    Togawa T; Kodama T; Suzuki T; Sugawara K; Tsukimura T; Ohashi T; Ishige N; Suzuki K; Kitagawa T; Sakuraba H
    Mol Genet Metab; 2010 Jul; 100(3):257-61. PubMed ID: 20409739
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 122(1-2):121-125. PubMed ID: 28847675
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.
    Sueoka H; Aoki M; Tsukimura T; Togawa T; Sakuraba H
    PLoS One; 2015; 10(12):e0144958. PubMed ID: 26661087
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Globotriaosylsphingosine (lyso-Gb
    Effraimidis G; Feldt-Rasmussen U; Rasmussen ÅK; Lavoie P; Abaoui M; Boutin M; Auray-Blais C
    J Med Genet; 2021 Oct; 58(10):692-700. PubMed ID: 32963035
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.
    Sueoka H; Ichihara J; Tsukimura T; Togawa T; Sakuraba H
    PLoS One; 2015; 10(5):e0127048. PubMed ID: 25965380
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 130(3):209-214. PubMed ID: 32418857
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 121(4):320-324. PubMed ID: 28663131
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
    Lavalle L; Thomas AS; Beaton B; Ebrahim H; Reed M; Ramaswami U; Elliott P; Mehta AB; Hughes DA
    PLoS One; 2018; 13(4):e0193550. PubMed ID: 29621274
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 21(1):44-52. PubMed ID: 29543226
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Globotriaosylsphingosine (Lyso-Gb
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 8(3):e57631. PubMed ID: 23472096
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
    Auray-Blais C; Blais CM; Ramaswami U; Boutin M; Germain DP; Dyack S; Bodamer O; Pintos-Morell G; Clarke JT; Bichet DG; Warnock DG; Echevarria L; West ML; Lavoie P
    Clin Chim Acta; 2015 Jan; 438():195-204. PubMed ID: 25149322
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
    Chien YH; Bodamer OA; Chiang SC; Mascher H; Hung C; Hwu WL
    J Inherit Metab Dis; 2013 Sep; 36(5):881-5. PubMed ID: 23109060
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 63(11):1531-1537. PubMed ID: 37866916
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
    Liu HC; Lin HY; Yang CF; Liao HC; Hsu TR; Lo CW; Chang FP; Huang CK; Lu YH; Lin SP; Yu WC; Niu DM
    Orphanet J Rare Dis; 2014 Jul; 9():111. PubMed ID: 25047006
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 83(9):1901-1907. PubMed ID: 31308318
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.