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 *

120 related articles for article (PubMed ID: 6418635)

  • 1. Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene".
    Gravel RA; Leung A
    Hum Genet; 1983; 65(2):112-6. PubMed ID: 6418635
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease.
    Håkansson G; Dreborg S; Lindsten J; Svennerholm L
    Clin Genet; 1980 Oct; 18(4):268-73. PubMed ID: 6777099
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic heterogeneity in type I Gaucher disease.
    Devine EA; Beighton P; Petersen EM; Desnick RJ
    Prog Clin Biol Res; 1982; 95():495-510. PubMed ID: 6812084
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease.
    Turner BM; Hirschhorn K
    Am J Hum Genet; 1978 Jul; 30(4):346-58. PubMed ID: 102189
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA; Goldblatt J; Dinur T; Kruse J; Svennerholm L; Gatt S; Desnick RJ
    Am J Med Genet; 1985 Jul; 21(3):529-49. PubMed ID: 3927728
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts.
    Choy FY
    Hum Genet; 1984; 67(4):432-6. PubMed ID: 6436168
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.
    Bergmann JE; Grabowski GA
    Am J Hum Genet; 1989 May; 44(5):741-50. PubMed ID: 2495719
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.
    Raghavan SS; Topol J; Kolodny EH
    Am J Hum Genet; 1980 Mar; 32(2):158-73. PubMed ID: 6770675
    [TBL] [Abstract][Full Text] [Related]  

  • 9. In utero diagnosis of Gaucher disease.
    Kitagawa T; Owada M; Sakiyama T; Aoki K; Kamoshita S; Amenomori Y; Kobayashi T
    Am J Hum Genet; 1978 May; 30(3):322-7. PubMed ID: 98040
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Soluble and membranous neutral beta-glucosidases.
    Ben-Yoseph Y; Nadler HL
    Prog Clin Biol Res; 1982; 95():465-80. PubMed ID: 6812082
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evidence for the deficiency of beta-glucosidase-activating factor in fibroblasts of patients with I-cell disease.
    Varon R; Kleijer WJ; Thompson EJ; d'Azzo A
    Hum Genet; 1982; 62(1):66-9. PubMed ID: 6818133
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes.
    Ginns EI; Erickson A; Tegelaers FP; Barneveld R; Reuser AJ; Brady RO; Tager JM; Barranger JA
    Isozymes Curr Top Biol Med Res; 1983; 11():83-93. PubMed ID: 6417048
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease.
    Sawkar AR; Cheng WC; Beutler E; Wong CH; Balch WE; Kelly JW
    Proc Natl Acad Sci U S A; 2002 Nov; 99(24):15428-33. PubMed ID: 12434014
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Beta-glucosidase activity in liver, spleen and brain in acute neuropathic Gaucher disease.
    Takahashi T; Nishio H; Kodama S; Nakamura H
    Brain Dev; 1990; 12(2):202-5. PubMed ID: 2113779
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
    Grabowski GA; Gatt S; Horowitz M
    Crit Rev Biochem Mol Biol; 1990; 25(6):385-414. PubMed ID: 2127241
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship.
    László A; Ilyés M; Klujber L
    Acta Paediatr Hung; 1984; 25(3):237-40. PubMed ID: 6437419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
    Choy FY; Bouillon L; Laurin CA
    Am J Med Genet; 1987 Aug; 27(4):895-905. PubMed ID: 3425599
    [TBL] [Abstract][Full Text] [Related]  

  • 19. In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease.
    Choy FY; Woo M; Potier M
    Biochim Biophys Acta; 1986 Mar; 870(1):76-81. PubMed ID: 3947649
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An in situ study of beta-glucosidase activity in normal and Gaucher fibroblasts with fluorogenic probes.
    Kohen E; Kohen C; Hirschberg JG; Santus R; Grabowski G; Mangel W; Gatt S; Prince J
    Cell Biochem Funct; 1993 Sep; 11(3):167-77. PubMed ID: 8403230
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.