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Volumn 9, Issue 1, 2005, Pages 26-29

Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BONE DISEASE; CHILD; CORRELATION ANALYSIS; ENZYME SPECIFICITY; ENZYME THERAPY; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC PARAMETERS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NULL ALLELE; PHENOTYPE; SPLENECTOMY;

EID: 17844373573     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2005.9.26     Document Type: Article
Times cited : (6)

References (14)
  • 1
    • 0025869216 scopus 로고
    • Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebrosidase for Gaucher's disease
    • BARTON, N.W., BRADY, R.O., DAMBROSIA, J.M., et al. (1991). Replacement therapy for inherited enzyme deficiency: Macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 324, 1464-1470.
    • (1991) N. Engl. J. Med. , vol.324 , pp. 1464-1470
    • Barton, N.W.1    Brady, R.O.2    Dambrosia, J.M.3
  • 2
    • 0027263071 scopus 로고
    • Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
    • BEUTLER, E. (1993). Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc. Natl. Acad. Sci. USA 90, 5384-5390.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 5384-5390
    • Beutler, E.1
  • 3
    • 0000216808 scopus 로고    scopus 로고
    • Gaucher disease
    • C.R. Scriver, D. Valle, A. Beaudet, and W.S. Sly (eds). (McGraw-Hill, New York)
    • BEUTLER E., and GRABOWSKI, G.A. (2001). Gaucher disease. In The Metabolic and Molecular Bases of Inherited Diseases, vol. III. C.R. Scriver, D. Valle, A. Beaudet, and W.S. Sly (eds). (McGraw-Hill, New York) pp. 3635-3668.
    • (2001) The Metabolic and Molecular Bases of Inherited Diseases , vol.3 , pp. 3635-3668
    • Beutler, E.1    Grabowski, G.A.2
  • 4
    • 16944365284 scopus 로고    scopus 로고
    • Glucocerebrosidase genotype of Gaucher patients in the Netherlands: Limitations in prognostic value
    • BOOT, R.G., HOLLAK, C.E.M., VERHOEK, M., et al. (1997). Glucocerebrosidase genotype of Gaucher patients in the Netherlands: limitations in prognostic value. Hum. Mutat. 10, 348-358.
    • (1997) Hum. Mutat. , vol.10 , pp. 348-358
    • Boot, R.G.1    Hollak, C.E.M.2    Verhoek, M.3
  • 5
    • 0027444631 scopus 로고
    • The role of neurogenetics in Gaucher disease
    • BRADY, R.O., BARTON, N.W., and GRABOWSKI, G.A. (1993). The role of neurogenetics in Gaucher disease. Arch. Neurol. 50, 1212-1224.
    • (1993) Arch. Neurol. , vol.50 , pp. 1212-1224
    • Brady, R.O.1    Barton, N.W.2    Grabowski, G.A.3
  • 6
    • 0742306870 scopus 로고    scopus 로고
    • The 1604A (R496H) mutation in Gaucher disease: Genotype/phenotype correlation
    • BRAUTBAR, A., ELSTEIN, D., ABRAHAMOV, A., et al., (2004). The 1604A (R496H) mutation in Gaucher disease: Genotype/phenotype correlation. Blood Cells Mol. Dis. 32, 214-217.
    • (2004) Blood Cells Mol. Dis. , vol.32 , pp. 214-217
    • Brautbar, A.1    Elstein, D.2    Abrahamov, A.3
  • 7
    • 0034728914 scopus 로고    scopus 로고
    • Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
    • COX, T., LACHMANN, R., HOLLAK, C., et al. (2000). Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355, 1481-1485.
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.1    Lachmann, R.2    Hollak, C.3
  • 8
    • 0031292176 scopus 로고    scopus 로고
    • Gaucher disease: Gene frequencies and genotype/phenotype correlations
    • GRABOWSKI, G.A. (1997). Gaucher disease: gene frequencies and genotype/phenotype correlations. Genet. Test. 1, 5-12.
    • (1997) Genet. Test. , vol.1 , pp. 5-12
    • Grabowski, G.A.1
  • 9
    • 0025352948 scopus 로고
    • Complex alleles of the acid-β-glucocidase gene in Gaucher disease
    • LATHAM, T., GRABOWSKI, G.A., THEOPHILUS, B.D., et al. (1990). Complex alleles of the acid-(β-glucocidase gene in Gaucher disease. Am. J. Hum. Genet. 47, 79-86.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 79-86
    • Latham, T.1    Grabowski, G.A.2    Theophilus, B.D.3
  • 10
    • 0037369244 scopus 로고    scopus 로고
    • Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup
    • PARK, J.K., ORVITSKY, E., TAYEBI, N., et al. (2003). Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr. Res. 53, 387-395.
    • (2003) Pediatr. Res. , vol.53 , pp. 387-395
    • Park, J.K.1    Orvitsky, E.2    Tayebi, N.3
  • 11
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • SIBILLE, A., ENG, C.M., KIM, S.-J., et al. (1993). Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am. J. Hum. Genet. 52, 1094-1101.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 1094-1101
    • Sibille, A.1    Eng, C.M.2    Kim, S.-J.3
  • 12
    • 0033951675 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
    • STONE, D.L., TAYEBI, N., ORVITSKY, E., et al. (2000). Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum. Mutat. 15, 181-188.
    • (2000) Hum. Mutat. , vol.15 , pp. 181-188
    • Stone, D.L.1    Tayebi, N.2    Orvitsky, E.3
  • 13
    • 0024455533 scopus 로고
    • Gaucher disease: Molecular heterogeneity and genotype-phenotype correlations
    • THEOPHILUS, B., LATHAM, T., GRABOWSKI, G.A., et al. (1989). Gaucher disease: molecular heterogeneity and genotype-phenotype correlations. Am. J. Hum. Genet. 45, 212-225.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 212-225
    • Theophilus, B.1    Latham, T.2    Grabowski, G.A.3
  • 14
    • 0024320293 scopus 로고
    • Prediction of severity of Gaucher's disease by identification of mutations at DNA level
    • ZIMRAN, A., SORGE, J., GROSS, E., et al. (1989). Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2, 349-352.
    • (1989) Lancet , vol.2 , pp. 349-352
    • Zimran, A.1    Sorge, J.2    Gross, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.