BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 20155722)

  • 21. [Enzyme replacement therapy in Fabry's disease].
    Alvarez L; del Pozo C; Trigueros M; Sánchez L; Albero MD; López-Menchero R; Ortega E
    Nefrologia; 2005; 25(3):322-7. PubMed ID: 16053014
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. [Biochemical study of unusual cases of Fabry disease].
    Beĭer EM; Karpova EA; Udalova OV; Tsvetkova IV
    Vopr Med Khim; 1998; 44(5):494-500. PubMed ID: 9916266
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Fabry disease: data from four families].
    Slee PH; van Boven LJ; Slee DS
    Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2412-5. PubMed ID: 11145098
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Two cases of heterozygous Fabry disease].
    Shibuya Y; Oku N; Suzuki Y; Gomi T
    Nihon Jinzo Gakkai Shi; 2006; 48(5):421-7. PubMed ID: 16913464
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Natural history and treatment of renal involvement in Fabry disease.
    Branton M; Schiffmann R; Kopp JB
    J Am Soc Nephrol; 2002 Jun; 13 Suppl 2():S139-43. PubMed ID: 12068026
    [No Abstract]   [Full Text] [Related]  

  • 27. 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]  

  • 28. [Nephropathy in a case of Fabry's disease].
    Reyes Marín FA; Gómez Navarro B; Tamayo y Orozco J; Larriva Sahd J; Hernández Pando R; Velázquez Forero F; Peña JC
    Rev Invest Clin; 1991; 43(4):373-6. PubMed ID: 1665922
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular genetic analysis of a Chinese patient with Fabry disease.
    Lam CW; Mak YT; Lo YM; Tong SF; To KF; Lai FM
    Chin Med J (Engl); 2000 Feb; 113(2):186-8. PubMed ID: 11775551
    [No Abstract]   [Full Text] [Related]  

  • 30. Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.
    Pisani A; Riccio E; Cianciaruso B; Imbriaco M
    J Nephrol; 2011; 24(6):806-8. PubMed ID: 22058028
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
    Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
    Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
    Rodríguez-Marí A; Coll MJ; Chabás A
    Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. A case of Fabry's disease.
    Miura M; Tomino Y; Inoue W; Endoh M; Suga T; Kaneshige H; Nomoto Y; Sakai H; Matsuo I; Nagura H; Ikeda N
    Tokai J Exp Clin Med; 1983 Jan; 8(1):23-9. PubMed ID: 6310828
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Fabry-like laminated myelin body associated with IgA nephropathy.
    Yoshida A; Morozumi K; Takeda A; Koyama K; Oikawa T
    Nihon Jinzo Gakkai Shi; 1994 Nov; 36(11):1303-7. PubMed ID: 7853764
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report.
    Wagrowska-Danilewicz M; Danilewicz M; Goździk Z
    Pol J Pathol; 1999; 50(1):61-3. PubMed ID: 10412277
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Fabry nephropathy in a female with superposed IgA glomerulonephritis].
    Pisani A; Sessa A; Sabbatini M; Andreucci MV; Fusco C; Balletta M; Cianciaruso B
    G Ital Nefrol; 2005; 22(4):385-9. PubMed ID: 16267800
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Atypical Fabry's disease. An oligosymptomatic variant.
    Ko YH; Kim HJ; Roh YS; Park CK; Kwon CK; Park MH
    Arch Pathol Lab Med; 1996 Jan; 120(1):86-9. PubMed ID: 8554452
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.