BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 9916266)

  • 1. [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]  

  • 2. The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
    Beyer EM; Karpova EA; Udalova OV; Ploos van Amstel JK; van Diggelen OP; Tsvetkova IV
    Clin Chim Acta; 1999 Feb; 280(1-2):81-9. PubMed ID: 10090526
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
    Sheth KJ; Good TA; Murphy JV
    Am J Med Genet; 1981; 10(2):141-6. PubMed ID: 6274191
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
    Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
    Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Alpha-galactosidases and alpha-N-acetylgalactosaminidase. Biochemical bases of Fabry's disease].
    Salvayre R; Negre A; Maret A; Douste-Blazy L
    Pathol Biol (Paris); 1984 Apr; 32(4):269-84. PubMed ID: 6326022
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Molecular forms of human leukocytic alpha-galactosidase and N-acetyl-alpha-galactosaminidase].
    Salvayre R; Maret A; Nègre A; Douste-Blazy L
    C R Seances Acad Sci D; 1979 Mar; 288(12):995-8. PubMed ID: 223774
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
    Beĭer EM; Kopishinskaia SV; Ploos van Amstel JK; Tsvetkova IV
    Vopr Med Khim; 1999; 45(4):346-9. PubMed ID: 10547886
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Biochemical diagnosis of Anderson-Fabry disease in two brothers].
    Vidershaĭn GIa; Beĭer EM; Mendel'son MM; Livandovskiĭ IuA
    Vopr Med Khim; 1986; 32(5):120-3. PubMed ID: 3095985
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular characterization of an extended family with Fabry disease.
    Wattanasirichaigoon D; Svasti J; Cairns JR; Tangnararatchakit K; Visudtibhan A; Keeratichamroen S; Ngiwsara L; Khowsathit P; Onkoksoong T; Lekskul A; Mongkolsiri D; Jariengprasert C; Thawil C; Ruencharoen S
    J Med Assoc Thai; 2006 Sep; 89(9):1528-35. PubMed ID: 17100396
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
    Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
    Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
    Mirceva V; Hein R; Ring J; Möhrenschlager M
    Australas J Dermatol; 2010 Feb; 51(1):36-8. PubMed ID: 20148840
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects].
    Peces R; Olea T
    Nefrologia; 2002; 22(6):540-6. PubMed ID: 12516287
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [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]  

  • 16. Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
    Verovnik F; Benko D; Vujkovac B; Linthorst GE
    Eur J Hum Genet; 2004 Aug; 12(8):678-81. PubMed ID: 15162124
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Anderson-Fabry disease with cerebrovascular complications in two Italian families.
    Borsini W; Giuliacci G; Torricelli F; Pelo E; Martinelli F; Scordo MR
    Neurol Sci; 2002 Jun; 23(2):49-53. PubMed ID: 12235491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New mutation in female patient with renal variant of Fabry disease and HIV.
    Solis MA; Pascual B; Boscá M; Ramos V; Carda C; Monteagudo C; Torregrosa I; Pons S; Miguel A
    J Nephrol; 2010; 23(2):231-3. PubMed ID: 20155722
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.
    Nance CS; Klein CJ; Banikazemi M; Dikman SH; Phelps RG; McArthur JC; Rodriguez M; Desnick RJ
    Arch Neurol; 2006 Mar; 63(3):453-7. PubMed ID: 16533976
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.