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Volumn 118, Issue 1, 2016, Pages 55-59

Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells

Author keywords

Autopsy reports; Enzyme replacement therapy; Gaucher disease; Modifier genes

Indexed keywords

ALGLUCERASE; ANTIHISTAMINIC AGENT; IMIGLUCERASE; VELAGLUCERASE ALFA;

EID: 84961146521     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.02.008     Document Type: Article
Times cited : (4)

References (11)
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  • 3
    • 0031436478 scopus 로고    scopus 로고
    • Gaucher's disease: clinical features and natural history
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    • Cox, T.M.1    Schofield, J.P.2
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    • 84932084034 scopus 로고    scopus 로고
    • Long-term treatment outcomes in Gaucher disease
    • Charrow J., Scott C.R. Long-term treatment outcomes in Gaucher disease. Am. J. Hematol. 2015, 90(Suppl. 1):S19-S24.
    • (2015) Am. J. Hematol. , vol.90 , pp. S19-S24
    • Charrow, J.1    Scott, C.R.2
  • 9
    • 69449103951 scopus 로고    scopus 로고
    • Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
    • Hulkova H., Ledvinova J., Poupetova H., Kohout A., Malinova V., Elleder M. Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J. Inherit. Metab. Dis. 2009, 32:551-559.
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 551-559
    • Hulkova, H.1    Ledvinova, J.2    Poupetova, H.3    Kohout, A.4    Malinova, V.5    Elleder, M.6
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    • Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data
    • Elleder M. Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. J. Inherit. Metab. Dis. 2006, 29:707-715.
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 707-715
    • Elleder, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.