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Journal Abstract Search

345 related items for PubMed ID: 1353340

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  • 3. Molecular basis of different forms of metachromatic leukodystrophy.
    Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V.
    N Engl J Med; 1991 Jan 03; 324(1):18-22. PubMed ID: 1670590
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  • 6. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
    Gort L, Coll MJ, Chabás A.
    Hum Mutat; 1999 Jan 03; 14(3):240-8. PubMed ID: 10477432
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  • 10. 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 03; 13(4):443-8. PubMed ID: 16678723
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  • 11. Diagnosis of arylsulfatase A deficiency.
    Li ZG, Waye JS, Chang PL.
    Am J Med Genet; 1992 Aug 01; 43(6):976-82. PubMed ID: 1357970
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  • 12. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
    Qu Y, Shapira E, Desnick RJ.
    Mol Genet Metab; 1999 Jul 01; 67(3):206-12. PubMed ID: 10381328
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  • 13. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
    Eng B, Nakamura LN, O'Reilly N, Schokman N, Nowaczyk MM, Krivit W, Waye JS.
    Hum Mutat; 2003 Nov 01; 22(5):418-9. PubMed ID: 14517960
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  • 15. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
    Luzi P, Rafi MA, Rao HZ, Wenger DA.
    Gene; 2013 Nov 10; 530(2):323-8. PubMed ID: 24001781
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  • 16. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
    Ługowska A, Berger J, Tylki-Szymańska A, Löschl B, Molzer B, Zobel M, Czartoryska B.
    Clin Genet; 2005 Jul 10; 68(1):48-54. PubMed ID: 15952986
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  • 19. [Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].
    Wang JM, Jiang YW, Shi HP, Zhang WM, Pan H, Bao XH, Wu Y, Qin J, Wu XR.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug 10; 23(4):378-82. PubMed ID: 16883521
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  • 20. Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.
    Tylki-Szymańska A, Ługowska A, Chmielik J, Kotowicz J, Jakubowska-Winecka A, Zobel M, Berger J, Molzer B.
    Am J Med Genet; 2002 Jul 15; 110(4):315-9. PubMed ID: 12116203
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