메뉴 건너뛰기




Volumn 32, Issue 5, 2009, Pages 660-664

Management of neuronopathic Gaucher disease: Revised recommendations

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME;

EID: 70350304844     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1164-2     Document Type: Article
Times cited : (99)

References (25)
  • 1
    • 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 (1995) Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346: 1000-1003
    • (1995) Lancet , vol.346 , pp. 1000-1003
    • Abrahamov, A.1    Elstein, D.2    Gross-Tsur, V.3
  • 2
    • 0035049241 scopus 로고    scopus 로고
    • The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
    • Altarescu G, Hill S, Wiggs E, Jeffries N, et al (2001) The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 138: 539-547
    • (2001) J Pediatr , vol.138 , pp. 539-547
    • Altarescu, G.1    Hill, S.2    Wiggs, E.3    Jeffries, N.4
  • 3
    • 0000216808 scopus 로고    scopus 로고
    • Gaucher disease
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Beutler E, Grabowski G A (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635-3638
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3635-3638
    • Beutler, E.1    Grabowski, G.A.2
  • 4
    • 0029135190 scopus 로고
    • Pathological findings in Gaucher disease type 2 patients following enzyme therapy
    • Bove KE, Daugherty C, Grabowski GA (1995) Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 26: 1040-1045
    • (1995) Hum Pathol , vol.26 , pp. 1040-1045
    • Bove, K.E.1    Daugherty, C.2    Grabowski, G.A.3
  • 5
    • 0343619352 scopus 로고    scopus 로고
    • Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease
    • Czartoryska B, Tylki-Szymanska A, Lugowska A (2000) Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Clin Biochem 33: 147-149 147-149
    • (2000) Clin Biochem , vol.33
    • Czartoryska, B.1    Tylki-Szymanska, A.2    Lugowska, A.3
  • 7
    • 35248885136 scopus 로고    scopus 로고
    • A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease
    • Davies EH, Surtees R, DeVile C, Schoon I, Vellodi A (2007b) A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease. J Inherit Metab Dis 30: 768-782
    • (2007) J Inherit Metab Dis , vol.30 , pp. 768-782
    • Davies, E.H.1    Surtees, R.2    DeVile, C.3    Schoon, I.4    Vellodi, A.5
  • 8
    • 0031670398 scopus 로고    scopus 로고
    • Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease
    • Elstein D, Abrahamov A, Zimran A (1998) Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease. Clin Genet 54: 179-184
    • (1998) Clin Genet , vol.54 , pp. 179-184
    • Elstein, D.1    Abrahamov, A.2    Zimran, A.3
  • 9
    • 0022837350 scopus 로고
    • Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment
    • Erikson A (1986) Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 326: 1-42
    • (1986) Acta Paediatr Scand Suppl , vol.326 , pp. 1-42
    • Erikson, A.1
  • 11
    • 33644592963 scopus 로고    scopus 로고
    • Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease
    • Erikson A, Forsberg H, Nilsson M, Astrom M, Mansson JE (2006) Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr 95: 312-317.
    • (2006) Acta Paediatr , vol.95 , pp. 312-317
    • Erikson, A.1    Forsberg, H.2    Nilsson, M.3    Astrom, M.4    Mansson, J.E.5
  • 12
    • 0041331590 scopus 로고    scopus 로고
    • Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3
    • Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E (2003) Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3. J Pediatr 143: 273-276
    • (2003) J Pediatr , vol.143 , pp. 273-276
    • Goker-Alpan, O.1    Schiffmann, R.2    Park, J.K.3    Stubblefield, B.K.4    Tayebi, N.5    Sidransky, E.6
  • 13
    • 47649097065 scopus 로고    scopus 로고
    • Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
    • Goker-Alpan O, Wiggs EA, Eblan MJ, et al (2008) Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. J Pediatr 153: 89-94
    • (2008) J Pediatr , vol.153 , pp. 89-94
    • Goker-Alpan, O.1    Wiggs, E.A.2    Eblan, M.J.3
  • 14
    • 0033381564 scopus 로고    scopus 로고
    • Ocular motor abnormalities in Gaucher disease
    • Harris CM, Taylor DS, Vellodi A (1999) Ocular motor abnormalities in Gaucher disease. Neuropediatrics 30: 289-293
    • (1999) Neuropediatrics , vol.30 , pp. 289-293
    • Harris, C.M.1    Taylor, D.S.2    Vellodi, A.3
  • 15
    • 0035140227 scopus 로고    scopus 로고
    • A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules
    • Inui K, Yanagihara K, Otani K, et al (2001) A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. J Pediatr 138: 137-139
    • (2001) J Pediatr , vol.138 , pp. 137-139
    • Inui, K.1    Yanagihara, K.2    Otani, K.3
  • 18
    • 38549096540 scopus 로고    scopus 로고
    • Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease
    • Maas M, Hangartner T, Mariani G, et al (2008) Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 37: 185-188
    • (2008) Skeletal Radiol , vol.37 , pp. 185-188
    • Maas, M.1    Hangartner, T.2    Mariani, G.3
  • 19
    • 4744370348 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Gaucher disease
    • Pastores GM, Weinreb NJ, Aerts H, et al (2004) Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41: 4-14
    • (2004) Semin Hematol , vol.41 , pp. 4-14
    • Pastores, G.M.1    Weinreb, N.J.2    Aerts, H.3
  • 20
  • 21
    • 0034015095 scopus 로고    scopus 로고
    • Communicating hydrocephalus in a patient with Gaucher's disease type 3
    • Shiihara T, Oka A, Suzaki I, Ida H, Takeshita K (2000) Communicating hydrocephalus in a patient with Gaucher's disease type 3. Pediatr Neurol 22: 234-236
    • (2000) Pediatr Neurol , vol.22 , pp. 234-236
    • Shiihara, T.1    Oka, A.2    Suzaki, I.3    Ida, H.4    Takeshita, K.5
  • 22
    • 0032900132 scopus 로고    scopus 로고
    • Enzyme replacement therapy in type III Gaucher disease
    • Tylki-Szymanska A, Czartoryska B (1999) Enzyme replacement therapy in type III Gaucher disease. J Inherit Metab Dis 22: 203-204
    • (1999) J Inherit Metab Dis , vol.22 , pp. 203-204
    • Tylki-Szymanska, A.1    Czartoryska, B.2
  • 23
    • 33646548592 scopus 로고    scopus 로고
    • Characterization of neuronopathic Gaucher disease among ethnic Poles
    • Tylki-Szymanska A, Keddache M, Grabowski GA (2006) Characterization of neuronopathic Gaucher disease among ethnic Poles. Genet Med 8: 8-15
    • (2006) Genet Med , vol.8 , pp. 8-15
    • Tylki-Szymanska, A.1    Keddache, M.2    Grabowski, G.A.3
  • 24
    • 0028352317 scopus 로고
    • New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P
    • Uchiyama A, Tomatsu S, Kondo N, et al (1994) New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 3: 1183-1184
    • (1994) Hum Mol Genet , vol.3 , pp. 1183-1184
    • Uchiyama, A.1    Tomatsu, S.2    Kondo, N.3
  • 25
    • 0034912891 scopus 로고    scopus 로고
    • Neuronopathic Gaucher Disease Task Force (2001) Management of neuronopathic Gaucher disease: A European consensus
    • Vellodi A, Bembi B, de Villemeur TB, et al; Neuronopathic Gaucher Disease Task Force (2001) Management of neuronopathic Gaucher disease: A European consensus. J Inherit Metab Dis 24: 319-327
    • J Inherit Metab Dis , vol.24 , pp. 319-327
    • Vellodi, A.1    Bembi, B.2    de Villemeur, T.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.