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Journal Abstract Search

274 related items for PubMed ID: 7749412

  • 21. [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]

  • 22. 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; 49(2):407-13. PubMed ID: 1678251
    [Abstract] [Full Text] [Related]

  • 23. 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; 86(3):353-9. PubMed ID: 16140556
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Arylsulfatase A pseudodeficiency incidence in Turkey.
    Emre S, Topçu M, Terzioğlu M, Renda Y.
    Turk J Pediatr; 2000 Aug 15; 42(2):115-7. PubMed ID: 10936976
    [Abstract] [Full Text] [Related]

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

  • 28. 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 15; 9(3):234-42. PubMed ID: 9090526
    [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. 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 31; 67(3):206-12. PubMed ID: 10381328
    [Abstract] [Full Text] [Related]

  • 31. 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 31; 49(6):1340-50. PubMed ID: 1684088
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  • 33. Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.
    Zlotogora J, Bach G, Barak Y, Elian E.
    Am J Hum Genet; 1980 Sep 31; 32(5):663-9. PubMed ID: 6107044
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  • 35. 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 31; 75(2):175-9. PubMed ID: 19054018
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  • 37. 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 31; 62(2):309-13. PubMed ID: 15710861
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  • 40. 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 31; 30(5):516-20. PubMed ID: 20890085
    [Abstract] [Full Text] [Related]

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