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 *

331 related articles for article (PubMed ID: 29037082)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Fabry disease due to D313Y and novel GLA mutations.
    Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
    BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The mutation p.D313Y is associated with organ manifestation in Fabry disease.
    du Moulin M; Koehn AF; Golsari A; Dulz S; Atiskova Y; Patten M; Münch J; Avanesov M; Ullrich K; Muschol N
    Clin Genet; 2017 Nov; 92(5):528-533. PubMed ID: 28276057
    [TBL] [Abstract][Full Text] [Related]  

  • 6. D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?
    Vicente R; Santos I; Coimbra M; Santos J; Santos R; Amoedo M; Pires C
    Nefrologia (Engl Ed); 2023; 43(5):636-639. PubMed ID: 36517364
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
    Klein A; Klug K; Breyer M; Grüner J; Medala VK; Nordbeck P; Wanner C; Klopocki E; Üçeyler N
    J Inherit Metab Dis; 2024 Jul; 47(4):805-817. PubMed ID: 38618884
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
    Biagini G; Almeida ACSF; Almeida TVR; Silva CAB; Castro BF; Reche TC; Dabinski AC; Barreto FC
    J Bras Nefrol; 2017; 39(3):333-336. PubMed ID: 29044343
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y.
    Godel T; Bäumer P; Stumpfe K; Muschol N; Kronlage M; Brunnée M; Kollmer J; Heiland S; Bendszus M; Mautner VF
    J Neurol; 2019 Jun; 266(6):1332-1339. PubMed ID: 30830284
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
    Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
    Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
    Oder D; Üçeyler N; Liu D; Hu K; Petritsch B; Sommer C; Ertl G; Wanner C; Nordbeck P
    BMJ Open; 2016 Apr; 6(4):e010422. PubMed ID: 27059467
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
    Choi JS; Kim CS; Park JW; Bae EH; Ma SK; Choi YD; Kim GH; Yoo HW; Kim SW
    Ren Fail; 2012; 34(3):390-3. PubMed ID: 22260214
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
    Csányi B; Hategan L; Nagy V; Obál I; Varga ET; Borbás J; Tringer A; Eichler S; Forster T; Rolfs A; Sepp R
    Int Heart J; 2017 May; 58(3):454-458. PubMed ID: 28496025
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
    Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
    Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Frequency of Fabry disease in male and female haemodialysis patients in Spain.
    Gaspar P; Herrera J; Rodrigues D; Cerezo S; Delgado R; Andrade CF; Forascepi R; Macias J; del Pino MD; Prados MD; de Alegria PR; Torres G; Vidau P; Sá-Miranda MC
    BMC Med Genet; 2010 Feb; 11():19. PubMed ID: 20122163
    [TBL] [Abstract][Full Text] [Related]  

  • 18.
    Palaiodimou L; Stefanou MI; Bakola E; Papadopoulou M; Kokotis P; Vrettou AR; Kapsia E; Petras D; Anastasakis A; Xifaras N; Karachaliou E; Touloumi G; Vlachopoulos C; Boletis IN; Giannopoulos S; Tsivgoulis G; Zompola C
    Neurology; 2022 Nov; 99(19):e2188-e2200. PubMed ID: 36344272
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.
    Peng H; Xu X; Zhang L; Zhang X; Peng H; Zheng Y; Luo S; Guo H; Xia K; Li J; Yao H; Hu Z
    Gene; 2016 Jan; 575(2 Pt 1):363-7. PubMed ID: 26456105
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.