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Journal Abstract Search

625 related items for PubMed ID: 17616409

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  • 3. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
    Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S.
    Mol Genet Metab; 2003 Nov; 80(3):360-3. PubMed ID: 14680985
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  • 6. Metachromatic leukodystrophy without arylsulfatase A deficiency.
    Shapiro LJ, Aleck KA, Kaback MM, Itabashi H, Desnick RJ, Brand N, Stevens RL, Fluharty AL, Kihara H.
    Pediatr Res; 1979 Oct; 13(10):1179-81. PubMed ID: 41211
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  • 8. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
    Dorboz I, Eymard-Pierre E, Kefi R, Abdelhak S, Miladi N, Boespflug-Tanguy O, Tunisian Leukodystrophy Study Group.
    J Neurol Sci; 2009 Dec 15; 287(1-2):278-80. PubMed ID: 19699491
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  • 10. Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
    Coulter-Mackie MB, Applegarth DA, Toone JR, Gagnier L, Anzarut AR, Hendson G.
    Can J Neurol Sci; 2002 May 15; 29(2):159-63. PubMed ID: 12035837
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  • 11. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
    Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M.
    J Clin Neurosci; 2006 May 15; 13(4):443-8. PubMed ID: 16678723
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  • 13. [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].
    Horovenko NH, Ol'khovych NV, Pichkur NO.
    Tsitol Genet; 2002 May 15; 36(5):43-8. PubMed ID: 12442547
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  • 15. A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
    Hahn AF, Gordon BA, Hinton GG, Gilbert JJ.
    Ann Neurol; 1982 Jul 15; 12(1):33-6. PubMed ID: 6126151
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  • 17. Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
    Whitfield PD, Sharp PC, Johnson DW, Nelson P, Meikle PJ.
    Mol Genet Metab; 2001 May 15; 73(1):30-7. PubMed ID: 11350180
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  • 20. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
    Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA.
    Hum Mutat; 1994 May 15; 4(3):199-207. PubMed ID: 7833949
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