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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 11600137)

  • 1. Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.
    Germain DP; Kaneski CR; Brady RO
    Mutat Res; 2001 Nov; 483(1-2):89-94. PubMed ID: 11600137
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.
    Brady RO; Murray GJ; Oliver KL; Leitman SF; Sneller MC; Fleisher TA; Barton NW
    Pediatrics; 1997 Dec; 100(6):E11. PubMed ID: 9382912
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
    Sheth J; Pancholi D; Mistri M; Nath P; Ankleshwaria C; Bhavsar R; Puri R; Phadke S; Sheth F
    BMC Med Genet; 2018 Oct; 19(1):178. PubMed ID: 30285649
    [TBL] [Abstract][Full Text] [Related]  

  • 4. High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
    Torralba MA; Alfonso P; Pérez-Calvo JI; Cenarro A; Pastores GM; Giraldo P; Civeira F; Pocoví M
    Blood Cells Mol Dis; 2002; 29(1):35-40. PubMed ID: 12482401
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
    Ponce E; Moskovitz J; Grabowski G
    Blood; 1997 Jul; 90(1):43-8. PubMed ID: 9207436
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
    Burke DG; Rahim AA; Waddington SN; Karlsson S; Enquist I; Bhatia K; Mehta A; Vellodi A; Heales S
    J Inherit Metab Dis; 2013 Sep; 36(5):869-72. PubMed ID: 23151684
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration.
    Rosenberg M; Kingma W; Fitzpatrick MA; Richards SM
    Blood; 1999 Mar; 93(6):2081-8. PubMed ID: 10068682
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages.
    Beutler E; Kuhl W; Vaughan LM
    Mol Med; 1995 Mar; 1(3):320-4. PubMed ID: 8529110
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies.
    Zhao H; Bailey LA; Grabowski GA
    Blood Cells Mol Dis; 2003; 30(1):90-6. PubMed ID: 12667990
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
    Grabowski GA; Barton NW; Pastores G; Dambrosia JM; Banerjee TK; McKee MA; Parker C; Schiffmann R; Hill SC; Brady RO
    Ann Intern Med; 1995 Jan; 122(1):33-9. PubMed ID: 7985893
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O; Marcão A; Sá Miranda M; Desnick RJ; Grace ME
    Eur J Hum Genet; 2000 Feb; 8(2):95-102. PubMed ID: 10757640
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
    Germain DP; Puech JP; Caillaud C; Kahn A; Poenaru L
    Am J Hum Genet; 1998 Aug; 63(2):415-27. PubMed ID: 9683600
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
    He GS; Grabowski GA
    Am J Hum Genet; 1992 Oct; 51(4):810-20. PubMed ID: 1415223
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
    Pomponio RJ; Cabrera-Salazar MA; Echeverri OY; Miller G; Barrera LA
    Mol Genet Metab; 2005 Dec; 86(4):466-72. PubMed ID: 16185907
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Anaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patient.
    Aviner S; Levy Y; Yaniv I; Cohen IJ
    Blood Cells Mol Dis; 1999 Apr; 25(2):92-4. PubMed ID: 10389590
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
    Beutler E; Beutler L; West C
    J Lab Clin Med; 2004 Aug; 144(2):65-8. PubMed ID: 15322500
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease.
    Séllos-Moura M; Barzegar S; Pan L; Shi P; Oommen S; Durant J; Ruiz JA
    J Immunol Methods; 2011 Oct; 373(1-2):45-53. PubMed ID: 21846471
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
    Sinclair G; Choy FY; Ferreira P
    Mol Genet Metab; 2001 Nov; 74(3):345-52. PubMed ID: 11708865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
    Alfonso P; Rodríguez-Rey JC; Gañán A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M
    Blood Cells Mol Dis; 2004; 32(1):218-25. PubMed ID: 14757438
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months.
    Pastores GM; Sibille AR; Grabowski GA
    Blood; 1993 Jul; 82(2):408-16. PubMed ID: 8392397
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.