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 *

166 related articles for article (PubMed ID: 18979223)

  • 1. Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.
    Oliveira JP; Ferreira S; Barceló J; Gaspar P; Carvalho F; Sá Miranda MC; Månsson JE
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S247-53. PubMed ID: 18979223
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.
    Oliveira JP; Ferreira S; Reguenga C; Carvalho F; Månsson JE
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S405-13. PubMed ID: 18979178
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Fabry disease: enzymatic screening using dried blood spots on filter paper].
    Caudron E; Germain DP; Prognon P
    Rev Med Interne; 2010 Dec; 31 Suppl 2():S263-9. PubMed ID: 21211677
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
    Zhou C; Huang J; Cui G; Zeng H; Wang DW; Zhou Q
    BMC Med Genet; 2018 Dec; 19(1):219. PubMed ID: 30587147
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
    Ferreira S; Ortiz A; Germain DP; Viana-Baptista M; Caldeira-Gomes A; Camprecios M; Fenollar-Cortés M; Gallegos-Villalobos Á; Garcia D; García-Robles JA; Egido J; Gutiérrez-Rivas E; Herrero JA; Mas S; Oancea R; Péres P; Salazar-Martín LM; Solera-Garcia J; Alves H; Garman SC; Oliveira JP
    Mol Genet Metab; 2015 Feb; 114(2):248-58. PubMed ID: 25468652
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
    Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
    Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
    Sakuraba H; Oshima A; Fukuhara Y; Shimmoto M; Nagao Y; Bishop DF; Desnick RJ; Suzuki Y
    Am J Hum Genet; 1990 Nov; 47(5):784-9. PubMed ID: 2171331
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
    Kroepfl T; Paul K; Kotanko P; Plecko B; Paschke E
    J Inherit Metab Dis; 2002 Dec; 25(8):695-6. PubMed ID: 12705499
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
    Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
    J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.
    Okur I; Ezgu F; Biberoglu G; Tumer L; Erten Y; Isitman M; Eminoglu FT; Hasanoglu A
    Gene; 2013 Sep; 527(1):42-7. PubMed ID: 23756194
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
    Ishii S; Nakao S; Minamikawa-Tachino R; Desnick RJ; Fan JQ
    Am J Hum Genet; 2002 Apr; 70(4):994-1002. PubMed ID: 11828341
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.
    Tanaka M; Ohashi T; Kobayashi M; Eto Y; Miyamura N; Nishida K; Araki E; Itoh K; Matsushita K; Hara M; Kuwahara K; Nakano T; Yasumoto N; Nonoguchi H; Tomita K
    Clin Nephrol; 2005 Oct; 64(4):281-7. PubMed ID: 16240899
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.
    Fitzmaurice TF; Desnick RJ; Bishop DF
    J Inherit Metab Dis; 1997 Sep; 20(5):643-57. PubMed ID: 9323559
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.
    Caudron E; Prognon P; Germain DP
    Eur J Med Genet; 2015 Dec; 58(12):681-4. PubMed ID: 26520229
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
    Oder D; Liu D; Üçeyler N; Sommer C; Hu K; Salinger T; Müntze J; Petritsch B; Ertl G; Wanner C; Nordbeck P; Weidemann F
    Medicine (Baltimore); 2018 May; 97(21):e10669. PubMed ID: 29794742
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.