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Journal Abstract Search

139 related items for PubMed ID: 10434678

  • 1. [Spinal muscular atrophy: a hexosaminidase A deficiency phenotype].
    Kawanami T, Kato T.
    Ryoikibetsu Shokogun Shirizu; 1999; (27 Pt 2):379-81. PubMed ID: 10434678
    [No Abstract] [Full Text] [Related]

  • 2. [Tay-Sachs disease].
    Itoh T, Miura AB.
    Ryoikibetsu Shokogun Shirizu; 1998; (22 Pt 3):389-92. PubMed ID: 9851170
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  • 5. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
    Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, Proia RL.
    Nat Genet; 1995 Oct; 11(2):170-6. PubMed ID: 7550345
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  • 7. 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
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  • 10. Molecular genetics of beta-hexosaminidase deficiencies.
    Neote K, Mahuran DJ, Gravel RA.
    Adv Neurol; 1991 Feb 22; 56():189-207. PubMed ID: 1830186
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  • 12. [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 Feb 22; 150(1):61-6. PubMed ID: 7801043
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  • 18. Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.
    Drucker L, Navon R.
    Hum Mutat; 1993 Feb 22; 2(5):415-7. PubMed ID: 8257995
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  • 19. The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
    Tifft CJ, Proia RL.
    Ann Med; 1997 Dec 22; 29(6):557-61. PubMed ID: 9562524
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