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Journal Abstract Search

616 related items for PubMed ID: 19177047

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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; 43(5):571-8. PubMed ID: 9585001
    [Abstract] [Full Text] [Related]

  • 3. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 May; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 4. [Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].
    Ben Turkia H, Riahi I, Azzouz H, Ladab S, Cherif W, Ben Chehida A, Abdelmoula MS, Caillaud C, Chemli J, Abdelhak S, Tebib N, Ben Dridi MF.
    Tunis Med; 2010 Mar; 88(3):158-62. PubMed ID: 20415187
    [Abstract] [Full Text] [Related]

  • 5. Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
    Church HJ, Cooper A, Stewart F, Thornton CM, Wraith JE.
    Eur J Hum Genet; 2004 Nov; 12(11):975-8. PubMed ID: 15292921
    [Abstract] [Full Text] [Related]

  • 6. 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 Nov; 32(4):487-93. PubMed ID: 12803123
    [Abstract] [Full Text] [Related]

  • 7. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
    Eblan MJ, Goker-Alpan O, Sidransky E.
    Fetal Pediatr Pathol; 2005 Nov; 24(4-5):205-22. PubMed ID: 16396828
    [Abstract] [Full Text] [Related]

  • 8. Bronchoalveolar lavage in a girl with Gaucher's disease. A case report.
    Carson KF, Williams CA, Rosenthal DL, Bhuta S, Kleerup E, Diaz RP, Sykes E.
    Acta Cytol; 1994 Nov; 38(4):597-600. PubMed ID: 8042430
    [Abstract] [Full Text] [Related]

  • 9. [Gaucher disease: diagnosis and treatment].
    Fumić K, Stavljenić-Rukavina A, Mrsić M, Potocki K.
    Acta Med Croatica; 2004 Nov; 58(5):353-8. PubMed ID: 15756799
    [Abstract] [Full Text] [Related]

  • 10. Gaucher's disease: a review for the internist and hepatologist.
    Niederau C, Häussinger D.
    Hepatogastroenterology; 2000 Nov; 47(34):984-97. PubMed ID: 11020862
    [Abstract] [Full Text] [Related]

  • 11. Perinatal lethal Gaucher's disease without prenatal complications.
    Zay A, Choy FY, Macleod P, Tan-Dy CR.
    Clin Genet; 2008 Feb; 73(2):191-5. PubMed ID: 18070135
    [No Abstract] [Full Text] [Related]

  • 12. Perinatal lethal form of Gaucher's disease presenting with hemosiderosis.
    Sharma R, Hudak ML, Perszyk AA, Premachandra BR, Li H, Monteiro C.
    Am J Perinatol; 2000 Feb; 17(4):201-6. PubMed ID: 11041442
    [Abstract] [Full Text] [Related]

  • 13. [Case report of Gaucher's disease].
    Krŭstev Z, Goshev E, Lukanov L, Vŭlkov I, Georgiev A.
    Vutr Boles; 1987 Feb; 26(4):77-83. PubMed ID: 3673038
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. [Complications of Gaucher's disease].
    Modrego Pardo PJ, Garzarán G, González N, Baiges JJ, Gazulla J.
    Rev Clin Esp; 1992 Oct; 191(6):311-3. PubMed ID: 1470721
    [Abstract] [Full Text] [Related]

  • 16. [Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy].
    Castelló Girona F, Domínguez Luengo C, del Toro Riera M, Chabás Bergon A.
    An Esp Pediatr; 2001 Mar; 54(3):310-2. PubMed ID: 11262263
    [Abstract] [Full Text] [Related]

  • 17. [An adult form of type-I. Gaucher's disease].
    Múzes G, Pitlik E, Gohér A, Somogyi A, Tulassay Z.
    Orv Hetil; 2000 Mar 26; 141(13):669-73. PubMed ID: 10774238
    [Abstract] [Full Text] [Related]

  • 18. Uveitis in Gaucher disease.
    Dweck A, Rozenman J, Ronen S, Zimran A, Elstein D.
    Am J Ophthalmol; 2005 Jul 26; 140(1):146-7. PubMed ID: 16038664
    [Abstract] [Full Text] [Related]

  • 19. [Gaucher's disease: study of a family from Friuli].
    Virgolini L, Silvestri F, Savignano C, Comelli M, Baccarani M.
    Minerva Med; 1993 Mar 26; 84(3):145-9. PubMed ID: 8492967
    [Abstract] [Full Text] [Related]

  • 20. Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.
    Park HW, Lee Y, Kim GH, Lee BS, Kim KS, Yoo HW, Kim EA.
    Gene; 2012 Oct 10; 507(2):170-3. PubMed ID: 22772462
    [Abstract] [Full Text] [Related]

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