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Volumn 78, Issue 1, 2011, Pages 106-108

Perinatal lethal gaucher disease

Author keywords

Hepatosplenomegaly; Hydrops; Ichthyosis; Perinatal lethal gaucher disease

Indexed keywords

ADRENALIN; ANTIBIOTIC AGENT; GLUCOSE; GLUCOSYLCERAMIDASE; INOTROPIC AGENT;

EID: 78751608140     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-010-0247-2     Document Type: Conference Paper
Times cited : (7)

References (9)
  • 2
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    • Perinatal-lethal Gaucher disease
    • 10.1002/ajmg.a.20117
    • C Mignot A Gelot B Bessières, et al. 2003 Perinatal-lethal Gaucher disease Am J Med Genet A 120 338 44 10.1002/ajmg.a.20117
    • (2003) Am J Med Genet A , vol.120 , pp. 338-44
    • Mignot, C.1    Gelot, A.2    Bessières, B.3
  • 3
    • 33644920441 scopus 로고    scopus 로고
    • Perinatal lethal Gaucher disease: A distinct phenotype along the neuronopathic continuum
    • DOI 10.1080/15227950500405296, PII J2251141511678
    • MJ Eblan O Goker-Alpan E Sidransky 2005 Perinatal Lethal Gaucher Disease: a distinct phenotype along the neuronopathic continuum Fetal Pediatr Pathol 24 4-5 205 22 10.1080/15227950500405296 16396828 (Pubitemid 43879267)
    • (2005) Fetal and Pediatric Pathology , vol.24 , Issue.4-5 , pp. 205-222
    • Eblan, M.1    Goker-Alpan, O.2    Sidransky, E.3
  • 4
    • 24644517457 scopus 로고    scopus 로고
    • Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease
    • DOI 10.1016/j.bcmd.2005.04.007, PII S1079979605000598
    • A Chabás L Gort A Díaz-Font, et al. 2005 Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease Blood Cells Mol Dis 35 253 8 10.1016/j.bcmd.2005. 04.007 15967693 (Pubitemid 41267057)
    • (2005) Blood Cells, Molecules, and Diseases , vol.35 , Issue.2 , pp. 253-258
    • Chabas, A.1    Gort, L.2    Diaz-Font, A.3    Montfort, M.4    Santamaria, R.5    Cidras, M.6    Grinberg, D.7    Vilageliu, L.8
  • 5
    • 0033951675 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
    • DOI 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S
    • DL Stone N Tayebi E Orvisky B Stubblefield V Madike E Sidransky 2000 Glucocerebrosidase gene mutations in patients with type 2 Gaucher Disease Hum Mutat 15 181 8 1:CAS:528:DC%2BD3cXhsF2ksbo%3D 10.1002/(SICI)1098-1004(200002)15: 2<181::AID-HUMU7>3.0.CO;2-S 10649495 (Pubitemid 30078409)
    • (2000) Human Mutation , vol.15 , Issue.2 , pp. 181-188
    • Stone, D.L.1    Tayebi, N.2    Orvisky, E.3    Stubblefield, B.4    Madike, V.5    Sidransky, E.6
  • 7
    • 0026778029 scopus 로고
    • Animal model of Gaucher's Disease from targeted disruption of the mouse glucocerebrosidase gene
    • 1:CAS:528:DyaK38Xks1Oqurw%3D 10.1038/357407a0 1594045
    • VL Tybulewicz ML Tremblay ME LaMarca, et al. 1992 Animal model of Gaucher's Disease from targeted disruption of the mouse glucocerebrosidase gene Nature 357 407 10 1:CAS:528:DyaK38Xks1Oqurw%3D 10.1038/357407a0 1594045
    • (1992) Nature , vol.357 , pp. 407-10
    • Tybulewicz, V.L.1    Tremblay, M.L.2    Lamarca, M.E.3
  • 9
    • 58149394044 scopus 로고    scopus 로고
    • Enzyme replacement therapy for Gaucher disease
    • 1:CAS:528:DC%2BD1cXhsVKrs7rE 10.1517/14712590802573395 19063698
    • J Charrow 2009 Enzyme replacement therapy for Gaucher disease Expert Opin Biol Ther 9 121 31 1:CAS:528:DC%2BD1cXhsVKrs7rE 10.1517/14712590802573395 19063698
    • (2009) Expert Opin Biol Ther , vol.9 , pp. 121-31
    • Charrow, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.