BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 1825851)

  • 1. Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
    Landels EC; Ellis IH; Bobrow M; Fensom AH
    J Med Genet; 1991 Feb; 28(2):101-9. PubMed ID: 1825851
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
    Peleg L; Goldman B
    Eur J Clin Chem Clin Biochem; 1994 Feb; 32(2):65-9. PubMed ID: 8003579
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
    Ben-Yoseph Y; Reid JE; Shapiro B; Nadler HL
    Am J Hum Genet; 1985 Jul; 37(4):733-40. PubMed ID: 9556661
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
    Prence EM; Natowicz MR; Zalewski I
    Clin Chem; 1993 Sep; 39(9):1811-4. PubMed ID: 8375052
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.
    Buchalter MS; Wannmacher CM; Wajner M
    J Inherit Metab Dis; 1984; 7(1):35-7. PubMed ID: 6234430
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Guetta E; Peleg L
    Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
    Grebner EE; Wenger DA
    Prenat Diagn; 1987 Jul; 7(6):419-23. PubMed ID: 2958791
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
    Bayleran J; Hechtman P; Saray W
    Clin Chim Acta; 1984 Nov; 143(2):73-89. PubMed ID: 6239713
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
    Charrow J; Inui K; Wenger DA
    Clin Genet; 1985 Jan; 27(1):78-84. PubMed ID: 3156697
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype.
    Ben-Yoseph Y; Pack BA; Thomas PM; Nadler HL; Kaback MM
    Am J Med Genet; 1988 Apr; 29(4):891-9. PubMed ID: 2969680
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
    Natowicz MR; Prence EM
    Curr Opin Pediatr; 1996 Dec; 8(6):625-9. PubMed ID: 9018448
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
    Strasberg PM; Clarke JT
    Clin Chem; 1992 Nov; 38(11):2249-55. PubMed ID: 1424119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fetal hexosaminidase A in mother's serum: pitfalls for carrier detection and prospects for prenatal diagnoses of GM2 gangliosidoses.
    Navon R; Lejbkowicz I; Adam A
    Am J Hum Genet; 1987 Jan; 40(1):60-1. PubMed ID: 2949607
    [No Abstract]   [Full Text] [Related]  

  • 14. First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A.
    Callahan JW; Archibald A; Skomorowski MA; Shuman C; Clarke JT
    Clin Biochem; 1990 Dec; 23(6):533-6. PubMed ID: 2149678
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
    Bayleran J; Hechtman P; Kolodny E; Kaback M
    Am J Hum Genet; 1987 Oct; 41(4):532-48. PubMed ID: 2959149
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy.
    Nguyen C; Gold RJ; Mahuran D; Lowden JA
    Clin Chim Acta; 1981 Jun; 113(1):13-25. PubMed ID: 6453673
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
    Triggs-Raine BL; Mules EH; Kaback MM; Lim-Steele JS; Dowling CE; Akerman BR; Natowicz MR; Grebner EE; Navon R; Welch JP
    Am J Hum Genet; 1992 Oct; 51(4):793-801. PubMed ID: 1384323
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.
    Rozenberg R; Pereira Lda V
    Sao Paulo Med J; 2001 Jul; 119(4):146-9. PubMed ID: 11500789
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
    Inui K; Wenger DA
    Clin Genet; 1984 Oct; 26(4):318-21. PubMed ID: 6238730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
    Landels EC; Ellis IH; Fensom AH; Green PM; Bobrow M
    J Med Genet; 1991 Mar; 28(3):177-80. PubMed ID: 1828838
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.