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

168 related items for PubMed ID: 12360742

  • 1. [Gaucher's and Fabry's diseases: biochemical and genetic aspects].
    Caillaud C, Poenaru L.
    J Soc Biol; 2002; 196(2):135-40. PubMed ID: 12360742
    [Abstract] [Full Text] [Related]

  • 2. [Gene therapy of Gaucher's and Fabry's diseases: current status and prospects].
    Fabrega S, Lehn P.
    J Soc Biol; 2002; 196(2):175-81. PubMed ID: 12360746
    [Abstract] [Full Text] [Related]

  • 3. The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
    Mistry PK, Cox TM.
    J Med Genet; 1993 Nov; 30(11):889-94. PubMed ID: 8301642
    [No Abstract] [Full Text] [Related]

  • 4. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
    Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.
    Lancet; 2012 Jan 28; 379(9813):335-41. PubMed ID: 22133539
    [Abstract] [Full Text] [Related]

  • 5. [Genetics of Gaucher's disease. Genotype-phenotype correlation].
    Alfonso Palacín P, Pocoví M.
    Med Clin (Barc); 2011 Sep 28; 137 Suppl 1():17-22. PubMed ID: 22230121
    [Abstract] [Full Text] [Related]

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

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.
    Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, Tanaka A, Kisanuki A, Tei C.
    Am J Cardiol; 2001 Jan 01; 87(1):71-5. PubMed ID: 11137837
    [Abstract] [Full Text] [Related]

  • 10. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
    Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.
    Am J Hum Genet; 2000 Jun 01; 66(6):1777-86. PubMed ID: 10796875
    [Abstract] [Full Text] [Related]

  • 11. [Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
    Germain DP.
    J Soc Biol; 2002 Jun 01; 196(2):161-73. PubMed ID: 12360745
    [Abstract] [Full Text] [Related]

  • 12. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
    Bolaman Z, Kadikoylu G, Levi E, Barutca S, Temucin K.
    Haematologia (Budap); 2002 Jun 01; 32(4):487-93. PubMed ID: 12803123
    [Abstract] [Full Text] [Related]

  • 13. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L.
    Hum Mutat; 1998 Jun 01; 11(4):295-305. PubMed ID: 9554746
    [Abstract] [Full Text] [Related]

  • 14. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
    Hum Mutat; 2000 Jun 01; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 15. [Contribution of genotyping in Fabry's disease].
    Froissart R, Piraud M, Maire I.
    Rev Med Interne; 2010 Dec 01; 31 Suppl 2():S275-8. PubMed ID: 21211679
    [Abstract] [Full Text] [Related]

  • 16. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

  • 17. Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.
    Tse KC, Chan KW, Tin VP, Yip PS, Tang S, Li FK, Ho YW, Lai KN, Chan TM.
    Nephrol Dial Transplant; 2003 Jan 15; 18(1):182-6. PubMed ID: 12480979
    [Abstract] [Full Text] [Related]

  • 18. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
    Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E.
    Pediatr Res; 1998 May 15; 43(5):571-8. PubMed ID: 9585001
    [Abstract] [Full Text] [Related]

  • 19. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.
    Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K.
    Clin Nephrol; 2005 Oct 15; 64(4):281-7. PubMed ID: 16240899
    [Abstract] [Full Text] [Related]

  • 20. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
    Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E.
    Mol Genet Metab; 2001 Aug 15; 73(4):313-21. PubMed ID: 11509013
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.