These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

234 related items for PubMed ID: 1357970

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 34(2):212-8. PubMed ID: 8101704
    [Abstract] [Full Text] [Related]

  • 3. Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
    Shen N, Li ZG, Waye JS, Francis G, Chang PL.
    Am J Med Genet; 1993 Mar 01; 45(5):631-7. PubMed ID: 8456837
    [Abstract] [Full Text] [Related]

  • 4. 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 Mar 01; 14(3):240-8. PubMed ID: 10477432
    [Abstract] [Full Text] [Related]

  • 5. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
    Dorboz I, Eymard-Pierre E, Kefi R, Abdelhak S, Miladi N, Boespflug-Tanguy O, Tunisian Leukodystrophy Study Group.
    J Neurol Sci; 2009 Dec 15; 287(1-2):278-80. PubMed ID: 19699491
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. 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 Dec 15; 5(2):137-43. PubMed ID: 7749412
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 49(2):407-13. PubMed ID: 1678251
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. 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 15; 13(1):61-8. PubMed ID: 9888390
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.
    Kihara H, Ho CK, Fluharty AL, Tsay KK, Hartlage PL.
    Pediatr Res; 1980 Mar 15; 14(3):224-7. PubMed ID: 6104322
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
    Coulter-Mackie MB, Applegarth DA, Toone J, Vallance H.
    Clin Biochem; 1997 Feb 15; 30(1):57-61. PubMed ID: 9056111
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 Feb 15; 9(3):234-42. PubMed ID: 9090526
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.