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Volumn 41, Issue 2, 2008, Pages 200-201

Identification of Gaucher disease mutations found in Saudi Arabia

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOCEREBROSIDASE; ENZYME; IMIGLUCERASE;

EID: 48749092058     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.05.002     Document Type: Letter
Times cited : (4)

References (8)
  • 1
    • 27744519517 scopus 로고    scopus 로고
    • Hematologically important mutations: Gaucher disease
    • Beutler E., Gelbart T., and Scott C.R. Hematologically important mutations: Gaucher disease. Blood Cells Mol. Dis. 35 (2005) 355-364
    • (2005) Blood Cells Mol. Dis. , vol.35 , pp. 355-364
    • Beutler, E.1    Gelbart, T.2    Scott, C.R.3
  • 2
    • 0029144034 scopus 로고
    • Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
    • Abrahamov A., Elstein D., Gross-Tsur V., et al. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346 (1995) 1000-1003
    • (1995) Lancet , vol.346 , pp. 1000-1003
    • Abrahamov, A.1    Elstein, D.2    Gross-Tsur, V.3
  • 3
    • 0027256392 scopus 로고
    • Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings
    • Sherer D.M., Metlay L.A., Sinkin R.A., et al. Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings. Obstet. Gynecol. 81 (1993) 842-844
    • (1993) Obstet. Gynecol. , vol.81 , pp. 842-844
    • Sherer, D.M.1    Metlay, L.A.2    Sinkin, R.A.3
  • 4
    • 0028214531 scopus 로고
    • Bone marrow transplantation beyond treatment of aplasia and neoplasia
    • Beutler E. Bone marrow transplantation beyond treatment of aplasia and neoplasia. West. J. Med. 160 (1994) 129-132
    • (1994) West. J. Med. , vol.160 , pp. 129-132
    • Beutler, E.1
  • 5
    • 0028883136 scopus 로고
    • Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
    • Grabowski G.A., Barton N.W., Pastores G., et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med. 122 (1995) 33-39
    • (1995) Ann. Intern. Med. , vol.122 , pp. 33-39
    • Grabowski, G.A.1    Barton, N.W.2    Pastores, G.3
  • 6
    • 4344675671 scopus 로고    scopus 로고
    • Cellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis
    • Mellor H., Harvey D., Platt F., et al. Cellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis. Biochem. J. 381 (2004) 861-866
    • (2004) Biochem. J. , vol.381 , pp. 861-866
    • Mellor, H.1    Harvey, D.2    Platt, F.3
  • 7
    • 0033911997 scopus 로고    scopus 로고
    • Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
    • Koprivica V., Stone D.L., Park J.K., et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am. J. Hum. Genet. 66 (2000) 1777-1786
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1777-1786
    • Koprivica, V.1    Stone, D.L.2    Park, J.K.3
  • 8
    • 0025605296 scopus 로고
    • Prevalence of different types of lysosomal storage diseases in Saudi Arabia
    • Ozand P.T., Al Aqeel A., Roberts G., et al. Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J. Inherit. Metab. Dis. 13 (1990) 849-861
    • (1990) J. Inherit. Metab. Dis. , vol.13 , pp. 849-861
    • Ozand, P.T.1    Al Aqeel, A.2    Roberts, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.