BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 6772023)

  • 21. Molecular and clinical heterogeneity of adult GM2 gangliosidosis.
    Navon R
    Dev Neurosci; 1991; 13(4-5):295-8. PubMed ID: 1840100
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
    Conzelmann E; Nehrkorn H; Kytzia HJ; Sandhoff K; Macek M; Lehovský M; Elleder M; Jirásek A; Kobilková J
    Pediatr Res; 1985 Nov; 19(11):1220-4. PubMed ID: 2933632
    [TBL] [Abstract][Full Text] [Related]  

  • 23. GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
    Raghavan SS; Krusell A; Krusell J; Lyerla TA; Kolodny EH
    Am J Hum Genet; 1985 Nov; 37(6):1071-82. PubMed ID: 2934978
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
    Inui K; Grebner EE; Jackson LG; Wenger DA
    Am J Hum Genet; 1983 Jul; 35(4):551-64. PubMed ID: 6224417
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
    Rattazzi MC; Brown JA; Davidson RG; Shows TB
    Am J Hum Genet; 1976 Mar; 28(2):143-54. PubMed ID: 817596
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
    Charrow J; Binns HJ
    Clin Chim Acta; 1986 Apr; 156(1):41-9. PubMed ID: 2938852
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
    Navon R; Kolodny EH; Mitsumoto H; Thomas GH; Proia RL
    Am J Hum Genet; 1990 Apr; 46(4):817-21. PubMed ID: 2278539
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
    Lane AB; Young E; Jenkins T
    Am J Hum Genet; 1980 Nov; 32(6):920-6. PubMed ID: 7446530
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.
    Karumuthil-Melethil S; Nagabhushan Kalburgi S; Thompson P; Tropak M; Kaytor MD; Keimel JG; Mark BL; Mahuran D; Walia JS; Gray SJ
    Hum Gene Ther; 2016 Jul; 27(7):509-21. PubMed ID: 27197548
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
    Navon R; Proia RL
    Science; 1989 Mar; 243(4897):1471-4. PubMed ID: 2522679
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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; 6(3):95-100. PubMed ID: 6230486
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Tay-Sachs disease].
    Tanaka A
    Nihon Rinsho; 1993 Sep; 51(9):2281-5. PubMed ID: 8411703
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
    Neudorfer O; Pastores GM; Zeng BJ; Gianutsos J; Zaroff CM; Kolodny EH
    Genet Med; 2005 Feb; 7(2):119-23. PubMed ID: 15714079
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
    Budde-Steffen C; Steffen M; Siegel DA; Suzuki K
    Neuropediatrics; 1988 May; 19(2):59-61. PubMed ID: 2967444
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
    Mules EH; Dowling CE; Petersen MB; Kazazian HH; Thomas GH
    Am J Hum Genet; 1991 Jun; 48(6):1181-5. PubMed ID: 1827945
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.
    Willner JP; Grabowski GA; Gordon RE; Bender AN; Desnick RJ
    Neurology; 1981 Jul; 31(7):787-98. PubMed ID: 6454083
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
    Agmon V; Khosravi R; Marchesini S; Dinur T; Dagan A; Gatt S; Navon R
    Clin Chim Acta; 1996 Mar; 247(1-2):105-20. PubMed ID: 8920231
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
    Yoo HW; Astrin KH; Desnick RJ
    J Korean Med Sci; 1993 Feb; 8(1):84-91. PubMed ID: 8343225
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
    Johnson WG; Wigger HJ; Karp HR; Glaubiger LM; Rowland LP
    Ann Neurol; 1982 Jan; 11(1):11-6. PubMed ID: 6460466
    [TBL] [Abstract][Full Text] [Related]  

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