BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

61 related articles for article (PubMed ID: 26297554)

  • 21. In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
    van der Tol L; Verhamme C; van Schaik IN; van der Kooi AJ; Hollak CE; Biegstraaten M
    JIMD Rep; 2016; 28():95-103. PubMed ID: 26563328
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.
    Ferri L; Cavicchi C; Fiumara A; Parini R; Guerrini R; Morrone A
    Clin Chim Acta; 2016 Jan; 452():82-6. PubMed ID: 26528637
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
    Gervas-Arruga J; Cebolla JJ; Irun P; Perez-Lopez J; Plaza L; Roche JC; Capablo JL; Rodriguez-Rey JC; Pocovi M; Giraldo P
    BMC Genet; 2015 Sep; 16():109. PubMed ID: 26334996
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.
    da Rocha Siqueira TC; de Souza CF; Lompa P; Picarelli M; Scheibel I; Bender F; Guidobono R; Burin MG; Giugliani R
    JIMD Rep; 2016; 26():99-102. PubMed ID: 26314583
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
    Gou P; Leng J; Cheng X; Zhang J
    Front Pediatr; 2023; 11():1057014. PubMed ID: 36873653
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system.
    Cui S; Fang X; Lee H; Shin YJ; Koh ES; Chung S; Park HS; Lim SW; Lee KI; Lee JY; Yang CW; Chung BH
    J Transl Med; 2023 Feb; 21(1):138. PubMed ID: 36814269
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
    Puentes-Tellez MA; Lerma-Barbosa PA; Garzón-Jaramillo RG; Suarez DA; Espejo-Mojica AJ; Guevara JM; Echeverri OY; Solano-Galarza D; Uribe-Ardila A; Alméciga-Díaz CJ
    Heliyon; 2020 Mar; 6(3):e03635. PubMed ID: 32258481
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.
    Čerkauskaitė A; Čerkauskienė R; Miglinas M; Laurinavičius A; Ding C; Rolfs A; Vencevičienė L; Barysienė J; Kazėnaitė E; Sadauskienė E
    Medicina (Kaunas); 2019 May; 55(5):. PubMed ID: 31067829
    [No Abstract]   [Full Text] [Related]  

  • 30. Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
    Chong Y; Kim M; Koh ES; Shin SJ; Kim HS; Chung S
    BMC Med Genet; 2016 Oct; 17(1):76. PubMed ID: 27776503
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
    Ashley GA; Shabbeer J; Yasuda M; Eng CM; Desnick RJ
    J Hum Genet; 2001; 46(4):192-6. PubMed ID: 11322659
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of mutations in Colombian patients affected with Fabry disease.
    Uribe A; Mateus HE; Prieto JC; Palacios MF; Ospina SY; Pasqualim G; da Silveira Matte U; Giugliani R
    Gene; 2015 Dec; 574(2):325-9. PubMed ID: 26297554
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM; Desnick RJ
    Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 38.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 39.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 4.