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345 related items for PubMed ID: 1353340

  • 21. Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
    Ługowska A, Szymańska K, Kmiec T, Tarczyńska I, Czartoryska B, Tylki-Szymańska A, Jurkiewicz E.
    J Appl Genet; 2005; 46(3):337-9. PubMed ID: 16110195
    [Abstract] [Full Text] [Related]

  • 22. 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; 4(3):199-207. PubMed ID: 7833949
    [Abstract] [Full Text] [Related]

  • 23. Arylsulfatase A pseudodeficiency incidence in Turkey.
    Emre S, Topçu M, Terzioğlu M, Renda Y.
    Turk J Pediatr; 2000; 42(2):115-7. PubMed ID: 10936976
    [Abstract] [Full Text] [Related]

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

  • 26. 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; 75(2):175-9. PubMed ID: 19054018
    [Abstract] [Full Text] [Related]

  • 27. High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
    Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin JC, Baumann N, von Figura K, Gieselmann V.
    Am J Hum Genet; 1993 Aug; 53(2):339-46. PubMed ID: 8101038
    [Abstract] [Full Text] [Related]

  • 28. Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
    Shukla P, Vasisht S, Srivastava R, Gupta N, Ghosh M, Kumar M, Sharma R, Gupta AK, Kaur P, Kamate M, Gulati S, Kalra V, Phadke S, Singhi P, Dherai AJ, Kabra M.
    J Neurol Sci; 2011 Feb 15; 301(1-2):38-45. PubMed ID: 21167507
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. Molecular bases of metachromatic leukodystrophy in Polish patients.
    Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A.
    J Hum Genet; 2010 Jun 31; 55(6):394-6. PubMed ID: 20339381
    [Abstract] [Full Text] [Related]

  • 31. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
    Ługowska A, Wlodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A.
    Clin Genet; 2009 Jan 31; 75(1):57-64. PubMed ID: 19021637
    [Abstract] [Full Text] [Related]

  • 32. 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 31; 65(1):105-8. PubMed ID: 21265945
    [Abstract] [Full Text] [Related]

  • 33. Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
    Hettiarachchi D, Dissanayake VHW.
    BMC Res Notes; 2019 Nov 06; 12(1):726. PubMed ID: 31694723
    [Abstract] [Full Text] [Related]

  • 34. 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 Nov 06; 9(3):234-42. PubMed ID: 9090526
    [Abstract] [Full Text] [Related]

  • 35. Arylsulfatase A pseudodeficiency--incidence in Poland.
    Czartoryska B, Zimowski JG, Bisko M, Górska D.
    Eur J Hum Genet; 1996 Nov 06; 4(5):301-3. PubMed ID: 8946177
    [Abstract] [Full Text] [Related]

  • 36. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
    Hasegawa Y, Kawame H, Eto Y.
    DNA Cell Biol; 1993 Nov 06; 12(6):493-8. PubMed ID: 8101083
    [Abstract] [Full Text] [Related]

  • 37. Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
    Halsall DJ, Halligan EP, Elsey TS, Cox TM.
    Hum Mutat; 1999 Nov 06; 14(5):447. PubMed ID: 10533072
    [Abstract] [Full Text] [Related]

  • 38. Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
    Kumperscak HG, Plesnicar BK, Zalar B, Gradisnik P, Seruga T, Paschke E.
    Psychiatr Genet; 2007 Apr 06; 17(2):85-91. PubMed ID: 17413447
    [Abstract] [Full Text] [Related]

  • 39. 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 06; 86(3):353-9. PubMed ID: 16140556
    [Abstract] [Full Text] [Related]

  • 40. Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.
    Francis GS, Bonni A, Shen N, Hechtman P, Yamut B, Carpenter S, Karpati G, Chang PL.
    Ann Neurol; 1993 Aug 06; 34(2):212-8. PubMed ID: 8101704
    [Abstract] [Full Text] [Related]

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