메뉴 건너뛰기




Volumn 24, Issue 1, 1998, Pages 73-81

Type 1 Gaucher disease: Phenotypic expression and natural history in Japanese patients

Author keywords

Gaucher disease; Natural history; Phenotype

Indexed keywords

CLINICAL ARTICLE; ENZYME DEFICIENCY; GAUCHER DISEASE; GROWTH RETARDATION; HEPATOSPLENOMEGALY; HUMAN; JAPAN; PRIORITY JOURNAL; REVIEW;

EID: 0031899307     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1998.0172     Document Type: Article
Times cited : (32)

References (17)
  • 1
    • 0028018009 scopus 로고
    • Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease
    • Brady R O, Murray G J, Barton N W. Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease. J Inher Metab Dis. 17:1994;510-519.
    • (1994) J Inher Metab Dis , vol.17 , pp. 510-519
    • Brady, R.O.1    Murray, G.J.2    Barton, N.W.3
  • 2
    • 0023221342 scopus 로고
    • Beneficial effect of pretransplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome
    • Hobbs J R, Jones K H, Shaw P J, Lindsay I, Hancock M. Beneficial effect of pretransplant splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet. I:1987;1111-1115.
    • (1987) Lancet , vol.1 , pp. 1111-1115
    • Hobbs, J.R.1    Jones, K.H.2    Shaw, P.J.3    Lindsay, I.4    Hancock, M.5
  • 3
    • 0029054529 scopus 로고
    • Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: Absence of the common Jewish 84GG and 1226G mutations
    • Ida H, Iwasawa K, Kawame H, Rennert O M, Maekawa K, Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet. 95:1995;717-720.
    • (1995) Hum Genet , vol.95 , pp. 717-720
    • Ida, H.1    Iwasawa, K.2    Kawame, H.3    Rennert, O.M.4    Maekawa, K.5    Eto, Y.6
  • 4
    • 0031043599 scopus 로고    scopus 로고
    • Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations
    • Ida H, Rennert O M, Kawame H, Maekawa K, Eto Y. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. J Inher Metab Dis. 20:1997;67-73.
    • (1997) J Inher Metab Dis , vol.20 , pp. 67-73
    • Ida, H.1    Rennert, O.M.2    Kawame, H.3    Maekawa, K.4    Eto, Y.5
  • 5
    • 0027451553 scopus 로고
    • Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease
    • Patterson M C, Horowitz M, Abel R B. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease. Neurology. 43:1993;1993-1997.
    • (1993) Neurology , vol.43 , pp. 1993-1997
    • Patterson, M.C.1    Horowitz, M.2    Abel, R.B.3
  • 6
    • 0029900863 scopus 로고    scopus 로고
    • Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1
    • Ida H, Rennert O M, Ito T, Maekawa K, Eto Y. Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. Acta Paediatr Jpn. 38:1996;233-236.
    • (1996) Acta Paediatr Jpn , vol.38 , pp. 233-236
    • Ida, H.1    Rennert, O.M.2    Ito, T.3    Maekawa, K.4    Eto, Y.5
  • 7
    • 0027179946 scopus 로고
    • Adult-type Gaucher disease in children: Genetic, clinical features and enzyme replacement therapy
    • Zevin S, Abrahamov A, Hadas-Halpern I. Adult-type Gaucher disease in children: genetic, clinical features and enzyme replacement therapy. QJM. 86:1993;565-573.
    • (1993) QJM , vol.86 , pp. 565-573
    • Zevin, S.1    Abrahamov, A.2    Hadas-Halpern, I.3
  • 8
    • 0026465017 scopus 로고
    • Gaucher disease: Clinical, laboratory, radiologic and genetic features in 53 patients
    • Zimran A, Kay A, Saven A, Thurston D, Garver P, Beutler E. Gaucher disease: clinical, laboratory, radiologic and genetic features in 53 patients. Medicine. 71:1992;337-353.
    • (1992) Medicine , vol.71 , pp. 337-353
    • Zimran, A.1    Kay, A.2    Saven, A.3    Thurston, D.4    Garver, P.5    Beutler, E.6
  • 9
    • 0024320293 scopus 로고
    • Prediction of severity of Gaucher's disease by identification of mutations at DNA level
    • Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet. 2:1989;349-352.
    • (1989) Lancet , vol.2 , pp. 349-352
    • Zimran, A.1    Sorge, J.2    Gross, E.3    Kubitz, M.4    West, C.5    Beutler, E.6
  • 10
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications
    • Sibille A, Eng C M, Kim S J, Pastores G, Grabowski G A. Phenotype/genotype correlations in Gaucher disease type 1: clinical and therapeutic implications. Am J Hum Genet. 52:1993;1094-1101.
    • (1993) Am J Hum Genet , vol.52 , pp. 1094-1101
    • Sibille, A.1    Eng, C.M.2    Kim, S.J.3    Pastores, G.4    Grabowski, G.A.5
  • 11
    • 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. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 324:1991;1464-1470.
    • (1991) N Engl J Med , vol.324 , pp. 1464-1470
    • Barton, N.W.1    Brady, R.O.2    Dambrosia, J.M.3
  • 12
    • 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. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Int Med. 122:1995;33-39.
    • (1995) Ann Int Med , vol.122 , pp. 33-39
    • Grabowski, G.A.1    Barton, N.W.2    Pastores, G.3
  • 13
    • 0029846221 scopus 로고    scopus 로고
    • Acceleration of retarded growth in children with Gaucher disease in children with Gaucher disease after treatment with alglucerase
    • Kaplan P, Mazur A, Manor O. Acceleration of retarded growth in children with Gaucher disease in children with Gaucher disease after treatment with alglucerase. J Pediatr. 129:1996;149-153.
    • (1996) J Pediatr , vol.129 , pp. 149-153
    • Kaplan, P.1    Mazur, A.2    Manor, O.3
  • 14
    • 0029155493 scopus 로고    scopus 로고
    • Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
    • Rosenthal D I, Doppelt S H, Mankin H J. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 96:1996;629-637.
    • (1996) Pediatrics , vol.96 , pp. 629-637
    • Rosenthal, D.I.1    Doppelt, S.H.2    Mankin, H.J.3
  • 16
    • 0029161804 scopus 로고
    • Management of Gaucher disease. Current status and future directions. A roundtable discussion
    • Duursma S A, Aerts J MFG, Belmatoug N. Management of Gaucher disease. Current status and future directions. A roundtable discussion. Seminars in Hematology. 32:1995;45-52.
    • (1995) Seminars in Hematology , vol.32 , pp. 45-52
    • Duursma, S.A.1    Aerts J. Mfg2    Belmatoug, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.