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

312 related items for PubMed ID: 7914243

  • 1. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
    Sakuraba H.
    Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 7. [Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T, Sakuraba H.
    Nihon Rinsho; 1995 Dec; 53(12):2952-9. PubMed ID: 8577042
    [Abstract] [Full Text] [Related]

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

  • 9. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ.
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
    [Abstract] [Full Text] [Related]

  • 10. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP, Poenaru L.
    Biochem Biophys Res Commun; 1999 Apr 21; 257(3):708-13. PubMed ID: 10208848
    [Abstract] [Full Text] [Related]

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

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

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
    Rodríguez-Marí A, Coll MJ, Chabás A.
    Hum Mutat; 2003 Sep 21; 22(3):258. PubMed ID: 12938095
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
    Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A.
    Hum Mutat; 2005 Apr 21; 25(4):412. PubMed ID: 15776423
    [Abstract] [Full Text] [Related]

  • 19. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
    Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T.
    J Cardiol; 2011 May 21; 57(3):345-53. PubMed ID: 21333496
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.