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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 33527381)

  • 1. 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; 99(6):761-771. PubMed ID: 33527381
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 17(1):199. PubMed ID: 35578305
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 38():101466. PubMed ID: 31715500
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Analysis of lyso-globotriaosylsphingosine in dried blood spots.
    Johnson B; Mascher H; Mascher D; Legnini E; Hung CY; Dajnoki A; Chien YH; Maródi L; Hwu WL; Bodamer OA
    Ann Lab Med; 2013 Jul; 33(4):274-8. PubMed ID: 23826564
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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; 501():27-32. PubMed ID: 31770509
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 11(7):. PubMed ID: 34199132
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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;
    PLoS One; 2021; 16(12):e0260601. PubMed ID: 34905550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 19(12):. PubMed ID: 30477121
    [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. 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; 21(1):58. PubMed ID: 32087678
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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; 447():96-104. PubMed ID: 26070511
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 143(1-2):108565. PubMed ID: 39182416
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
    Alharbi FJ; Baig S; Rambhatla SB; Vijapurapu R; Auray-Blais C; Boutin M; Steeds R; Wheeldon N; Dawson C; Geberhiwot T
    Clin Chim Acta; 2020 Jan; 500():120-127. PubMed ID: 31654629
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.