BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

390 related articles for article (PubMed ID: 16595074)

  • 41. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
    Froissart R; Guffon N; Vanier MT; Desnick RJ; Maire I
    Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
    Sakuraba H; Eng CM; Desnick RJ; Bishop DF
    Genomics; 1992 Apr; 12(4):643-50. PubMed ID: 1315304
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
    Lai LW; Whitehair O; Wu MJ; O'Meara M; Lien YH
    Clin Genet; 2003 Jun; 63(6):476-82. PubMed ID: 12786754
    [TBL] [Abstract][Full Text] [Related]  

  • 44. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
    Garman SC; Garboczi DN
    J Mol Biol; 2004 Mar; 337(2):319-35. PubMed ID: 15003450
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure.
    Wang C; Wang Y; Zhu F; Xiong J
    Kidney Blood Press Res; 2013; 37(4-5):221-8. PubMed ID: 23867994
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Novel GLA gene mutations in two Chinese families with classic Fabry disease.
    Wang ZX; Zhang Y; Bu DF; Zhang W; Yuan Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct; 22(5):489-92. PubMed ID: 16215932
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Translational readthrough of
    Lombardi S; Ferrarese M; Marchi S; Pinton P; Pinotti M; Bernardi F; Branchini A
    RNA Biol; 2020 Feb; 17(2):254-263. PubMed ID: 31613176
    [TBL] [Abstract][Full Text] [Related]  

  • 48. [Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T; Sakuraba H
    Nihon Rinsho; 1995 Dec; 53(12):2952-9. PubMed ID: 8577042
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].
    Meng Y; Zhang WM; Shi HP; Wei M; Huang SZ
    Zhonghua Yi Xue Za Zhi; 2010 Mar; 90(8):551-4. PubMed ID: 20367968
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
    Okumiya T; Takenaka T; Ishii S; Kase R; Kamei S; Sakuraba H
    Jpn J Hum Genet; 1996 Sep; 41(3):313-21. PubMed ID: 8996967
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
    Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
    Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
    [TBL] [Abstract][Full Text] [Related]  

  • 52. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
    Benjamin ER; Flanagan JJ; Schilling A; Chang HH; Agarwal L; Katz E; Wu X; Pine C; Wustman B; Desnick RJ; Lockhart DJ; Valenzano KJ
    J Inherit Metab Dis; 2009 Jun; 32(3):424-40. PubMed ID: 19387866
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
    Kono JO; Podskarbi T; Shin Y; Lanzl I
    Cornea; 2003 Mar; 22(2):175-7. PubMed ID: 12605057
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
    Ishii S; Chang HH; Kawasaki K; Yasuda K; Wu HL; Garman SC; Fan JQ
    Biochem J; 2007 Sep; 406(2):285-95. PubMed ID: 17555407
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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; 11(1):54. PubMed ID: 27142856
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Fabry disease: a new approach for the screening of females in high-risk groups.
    Pasqualim G; Simon L; Sperb-Ludwig F; Burin MG; Michelin-Tirelli K; Giugliani R; Matte U
    Clin Biochem; 2014 May; 47(7-8):657-62. PubMed ID: 24582695
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
    Nakao S; Kodama C; Takenaka T; Tanaka A; Yasumoto Y; Yoshida A; Kanzaki T; Enriquez AL; Eng CM; Tanaka H; Tei C; Desnick RJ
    Kidney Int; 2003 Sep; 64(3):801-7. PubMed ID: 12911529
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Five novel mutations in fourteen patients with Fabry Disease.
    Rosenberg KM; Schiffmann R; Kaneski C; Brady RO; Sorensen SA; Hasholt L
    Hum Mutat; 2000 Feb; 15(2):207-8. PubMed ID: 10649504
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
    Andreotti G; Citro V; De Crescenzo A; Orlando P; Cammisa M; Correra A; Cubellis MV
    Orphanet J Rare Dis; 2011 Oct; 6():66. PubMed ID: 22004918
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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; 77(8):617-621. PubMed ID: 29037082
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.