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Journal Abstract Search

365 related items for PubMed ID: 8104633

  • 21. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
    Fluharty AL, Fluharty CB, Bohne W, von Figura K, Gieselmann V.
    Am J Hum Genet; 1991 Dec; 49(6):1340-50. PubMed ID: 1684088
    [Abstract] [Full Text] [Related]

  • 22. Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
    Virgens MY, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira ML.
    Gene; 2015 Aug 15; 568(1):69-75. PubMed ID: 25965562
    [Abstract] [Full Text] [Related]

  • 23. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
    Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M.
    Hum Genet; 2002 Apr 15; 110(4):351-5. PubMed ID: 11941485
    [Abstract] [Full Text] [Related]

  • 24. Molecular genetics of metachromatic leukodystrophy.
    Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP.
    Hum Mutat; 1994 Apr 15; 4(4):233-42. PubMed ID: 7866401
    [Abstract] [Full Text] [Related]

  • 25. Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
    Shahzad MA, Khaliq S, Amar A, Mahmood S.
    J Mol Neurosci; 2017 Sep 15; 63(1):84-90. PubMed ID: 28799099
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. 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 03; 67(3):206-12. PubMed ID: 10381328
    [Abstract] [Full Text] [Related]

  • 28. [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 03; 31(5):615-8. PubMed ID: 25297594
    [Abstract] [Full Text] [Related]

  • 29. Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
    Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B.
    Mol Genet Metab; 2005 Nov 03; 86(3):353-9. PubMed ID: 16140556
    [Abstract] [Full Text] [Related]

  • 30. [Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy].
    Ohshima T, Takahashi J, Tohgi H, Sakuragawa N.
    Rinsho Shinkeigaku; 1994 Jan 03; 34(1):1-4. PubMed ID: 7908863
    [Abstract] [Full Text] [Related]

  • 31. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
    Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E.
    Clin Genet; 2009 Feb 03; 75(2):175-9. PubMed ID: 19054018
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
    Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K.
    Am J Hum Genet; 1991 Aug 10; 49(2):407-13. PubMed ID: 1678251
    [Abstract] [Full Text] [Related]

  • 34. Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.
    Onder E, Sinici I, Müjgan Sönmez F, Topçu M, Ozkara HA.
    Neurol Res; 2009 Feb 10; 31(1):60-6. PubMed ID: 18768108
    [Abstract] [Full Text] [Related]

  • 35. Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.
    Issa AB, Feki FK, Jdila MB, Khabou B, Rhouma BB, Ammar-Keskes L, Triki C, Fakhfakh F.
    J Mol Neurosci; 2018 Sep 10; 66(1):17-25. PubMed ID: 30083785
    [Abstract] [Full Text] [Related]

  • 36. An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
    Tinsa F, Caillaud C, Vanier MT, Bousnina D, Boussetta K, Bousnina S.
    J Child Neurol; 2010 Jan 10; 25(1):82-6. PubMed ID: 19574581
    [Abstract] [Full Text] [Related]

  • 37. 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 10; 65(1):105-8. PubMed ID: 21265945
    [Abstract] [Full Text] [Related]

  • 38. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
    Berger J, Löschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, Molzer B.
    Am J Med Genet; 1997 Mar 31; 69(3):335-40. PubMed ID: 9096767
    [Abstract] [Full Text] [Related]

  • 39. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
    Wu S, Hou M, Zhang Y, Song J, Guo Y, Liu P, Liu Y, Yi L, Pan X, We W, Chen Z.
    J Mol Neurosci; 2021 Feb 31; 71(2):245-251. PubMed ID: 32617873
    [Abstract] [Full Text] [Related]

  • 40. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
    Barth ML, Fensom A, Harris A.
    Hum Mol Genet; 1993 Dec 31; 2(12):2117-21. PubMed ID: 7906588
    [Abstract] [Full Text] [Related]

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