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Journal Abstract Search
194 related items for PubMed ID: 8003579
1. 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 [Abstract] [Full Text] [Related]
2. 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 [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 [Abstract] [Full Text] [Related]
4. 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 15; 143(2):73-89. PubMed ID: 6239713 [Abstract] [Full Text] [Related]
5. Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes. Navon R, Nutman J, Kopel R, Gaber L, Gadoth N, Goldman B, Nitzan M. Am J Hum Genet; 1981 Nov 15; 33(6):907-15. PubMed ID: 6459736 [Abstract] [Full Text] [Related]
6. 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 15; 39(9):1811-4. PubMed ID: 8375052 [Abstract] [Full Text] [Related]
7. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity. Charrow J, Inui K, Wenger DA. Clin Genet; 1985 Jan 15; 27(1):78-84. PubMed ID: 3156697 [Abstract] [Full Text] [Related]
8. Thermolabile hexosaminidase (Hex) B: diverse frequencies among Jewish communities and implication for screening of sera for Hex A deficiencies. Navon R, Adam A. Hum Hered; 1990 Jan 15; 40(2):99-104. PubMed ID: 2139865 [Abstract] [Full Text] [Related]
9. Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease. Ben-Yoseph Y, Baylerian MS, Momoi T, Nadler HL. J Inherit Metab Dis; 1983 Jan 15; 6(3):95-100. PubMed ID: 6230486 [Abstract] [Full Text] [Related]
10. 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 Jan 15; 7(1):35-7. PubMed ID: 6234430 [Abstract] [Full Text] [Related]
11. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease. Guetta E, Peleg L. Methods Mol Biol; 2008 Jan 15; 444():147-59. PubMed ID: 18425478 [Abstract] [Full Text] [Related]
12. 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 02; 113(1):13-25. PubMed ID: 6453673 [Abstract] [Full Text] [Related]
13. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese. Hechtman P, Boulay B, Bayleran J, Andermann E. Clin Genet; 1989 May 02; 35(5):364-75. PubMed ID: 2527097 [Abstract] [Full Text] [Related]
14. 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 02; 29(4):891-9. PubMed ID: 2969680 [Abstract] [Full Text] [Related]
15. Molecular basis of heat labile hexosaminidase B among Jews and Arabs. Narkis G, Adam A, Jaber L, Pennybacker M, Proia RL, Navon R. Hum Mutat; 1997 Apr 02; 10(6):424-9. PubMed ID: 9401004 [Abstract] [Full Text] [Related]