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Journal Abstract Search

108 related items for PubMed ID: 7659693

  • 1. Prenatal diagnosis of GM2-gangliosidosis B1 variant.
    Lemos M, Pinto R, Ribeiro G, Ribeiro H, Lopes L, Sá Miranda MC.
    Prenat Diagn; 1995 Jun; 15(6):585-8. PubMed ID: 7659693
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
    Suzuki K, Vanier MT.
    Dev Neurosci; 1991 Nov; 13(4-5):288-94. PubMed ID: 1840099
    [Abstract] [Full Text] [Related]

  • 4. Prenatal diagnosis of GM2-gangliosidosis. Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy.
    Sakuraba H, Itoh K, Kotani M, Tai T, Yamada H, Kurosawa K, Kuroki Y, Suzuki H, Utsunomiya T, Inoue H.
    Brain Dev; 1993 Nov; 15(4):278-82. PubMed ID: 8250149
    [Abstract] [Full Text] [Related]

  • 5. [GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].
    Le Coz P, Assouline E, Vanier MT, Goutières F, Mikol J, Woimant F, Pinard JM, Aicardi J, Haguenau M.
    Rev Neurol (Paris); 1994 Nov; 150(1):61-6. PubMed ID: 7801043
    [Abstract] [Full Text] [Related]

  • 6. Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
    Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F.
    Mol Genet Metab; 2023 Feb; 138(2):106983. PubMed ID: 36709536
    [Abstract] [Full Text] [Related]

  • 7. GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
    dos Santos MR, Tanaka A, sá Miranda MC, Ribeiro MG, Maia M, Suzuki K.
    Am J Hum Genet; 1991 Oct; 49(4):886-90. PubMed ID: 1832817
    [Abstract] [Full Text] [Related]

  • 8. B1 variant of GM2 gangliosidosis in a 12-year-old patient.
    Goebel HH, Stolte G, Kustermann-Kuhn B, Harzer K.
    Pediatr Res; 1989 Jan; 25(1):89-93. PubMed ID: 2521932
    [Abstract] [Full Text] [Related]

  • 9. The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
    Mahuran DJ.
    Biochim Biophys Acta; 1991 Feb 22; 1096(2):87-94. PubMed ID: 1825792
    [No Abstract] [Full Text] [Related]

  • 10. Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.
    Sonderfeld S, Brendler S, Sandhoff K, Galjaard H, Hoogeveen AT.
    Hum Genet; 1985 Feb 22; 71(3):196-200. PubMed ID: 2933318
    [Abstract] [Full Text] [Related]

  • 11. Accumulation of ganglioside Gm2 in cerebrospinal fluid of a patient with the variant AB of infantile Gm2 gangliosidosis.
    Pullarkat RK, Reha H, Beratis NG.
    Pediatrics; 1981 Jul 22; 68(1):106-8. PubMed ID: 7243492
    [Abstract] [Full Text] [Related]

  • 12. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
    Charrow J, Binns HJ.
    Clin Chim Acta; 1986 Apr 15; 156(1):41-9. PubMed ID: 2938852
    [Abstract] [Full Text] [Related]

  • 13. [Recent advances in molecular genetics of GM2 gangliosidosis].
    Wakamatsu N.
    Nihon Rinsho; 1995 Dec 15; 53(12):2988-93. PubMed ID: 8577047
    [Abstract] [Full Text] [Related]

  • 14. Biochemical consequences of mutations causing the GM2 gangliosidoses.
    Mahuran DJ.
    Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):105-38. PubMed ID: 10571007
    [Abstract] [Full Text] [Related]

  • 15. GM2 gangliosidosis variant B1 neuroradiological findings.
    Grosso S, Farnetani MA, Berardi R, Margollicci M, Galluzzi P, Vivarelli R, Morgese G, Ballestri P.
    J Neurol; 2003 Jan 08; 250(1):17-21. PubMed ID: 12527987
    [Abstract] [Full Text] [Related]

  • 16. Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis.
    Navon R, Adam A.
    Am J Hum Genet; 1985 Sep 08; 37(5):1031-3. PubMed ID: 2931975
    [No Abstract] [Full Text] [Related]

  • 17. Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.
    Li YT, Hirabayashi Y, Li SC.
    Am J Hum Genet; 1983 May 08; 35(3):520-2. PubMed ID: 6222647
    [Abstract] [Full Text] [Related]

  • 18. Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.
    Poulos A, Holding J, Carey WF.
    Clin Chim Acta; 1982 Apr 23; 120(3):331-40. PubMed ID: 6210469
    [Abstract] [Full Text] [Related]

  • 19. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Guetta E, Peleg L.
    Methods Mol Biol; 2008 Apr 23; 444():147-59. PubMed ID: 18425478
    [Abstract] [Full Text] [Related]

  • 20. GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis.
    Raghavan S, Krusell A, Lyerla TA, Bremer EG, Kolodny EH.
    Biochim Biophys Acta; 1985 Apr 25; 834(2):238-48. PubMed ID: 3995063
    [Abstract] [Full Text] [Related]

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