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Journal Abstract Search

393 related items for PubMed ID: 16883521

  • 1. [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; 23(4):378-82. PubMed ID: 16883521
    [Abstract] [Full Text] [Related]

  • 2. Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
    Berger J, Gmach M, Mayr U, Molzer B, Bernheimer H.
    Hum Mutat; 1999 Aug; 13(1):61-8. PubMed ID: 9888390
    [Abstract] [Full Text] [Related]

  • 3. 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 Aug; 14(3):240-8. PubMed ID: 10477432
    [Abstract] [Full Text] [Related]

  • 4. 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 Aug; 4(3):199-207. PubMed ID: 7833949
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  • 7. Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
    Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C.
    Hum Mutat; 1997 Aug; 9(3):234-42. PubMed ID: 9090526
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  • 8. Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
    Hayashi T, Nakamura M, Ichiba M, Matsuda M, Kato M, Shiokawa N, Shimo H, Tomiyasu A, Mori S, Tomiyasu Y, Ishizuka T, Inamori Y, Okamoto Y, Umehara F, Arimura K, Nakabeppu Y, Sano A.
    Psychiatry Clin Neurosci; 2011 Feb; 65(1):105-8. PubMed ID: 21265945
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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; 13(4):443-8. PubMed ID: 16678723
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  • 11. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
    Kang DH, Lee DH, Hong YH, Lee ST, Jeon BR, Lee YK, Ki CS, Lee YW.
    Korean J Lab Med; 2010 Oct; 30(5):516-20. PubMed ID: 20890085
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  • 13. [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].
    Yang J, Cao J, Li Y, Zheng H, Li J, Liang Y, Liu Z, Wang L, Zhang C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):615-8. PubMed ID: 25297594
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  • 14. [Novel double heterozygous mutations on Met306Val and Thr181Asn related to a hereditary coagulation factor VII deficiency].
    Tu CQ, Deng CY, Wu JZ, Pan CY, Xie CY.
    Zhonghua Yi Xue Za Zhi; 2006 Jan 10; 86(2):124-7. PubMed ID: 16620721
    [Abstract] [Full Text] [Related]

  • 15. Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
    Marcão AM, Wiest R, Schindler K, Wiesmann U, Weis J, Schroth G, Miranda MC, Sturzenegger M, Gieselmann V.
    Arch Neurol; 2005 Feb 10; 62(2):309-13. PubMed ID: 15710861
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  • 16. 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 10; 80(3):360-3. PubMed ID: 14680985
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  • 17. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
    Harvey JS, Nelson PV, Carey WF, Robertson EF, Morris CP.
    Hum Mutat; 1993 Nov 10; 2(4):261-7. PubMed ID: 8104633
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  • 18. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
    Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V.
    Hum Mutat; 1995 Nov 10; 5(2):137-43. PubMed ID: 7749412
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  • 19. 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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  • 20. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
    Kappler J, von Figura K, Gieselmann V.
    Ann Neurol; 1992 Mar 15; 31(3):256-61. PubMed ID: 1353340
    [Abstract] [Full Text] [Related]

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