The role of the iminosugar <i>N</i>‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement
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- T. M. Cox
- Department of Medicine University of Cambridge, Addenbrooke's Hospital Cambridge UK
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- J. M. F. G. Aerts
- Department of Biochemistry, Academic Medical Centre University of Amsterdam Amsterdam The Netherlands
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- G. Andria
- Department of Paediatrics Federico II University Naples Italy
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- M. Beck
- Biochemisch‐Genetisches Labor Universitats‐Kinderklinik Mainz Germany
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- N. Belmatoug
- Hôpital Beaujon Clichy France
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- B. Bembi
- Istituto per l'Infanzia Burlo Garofolo Trieste Italy
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- R. Chertkoff
- Israeli Gaucher Patients Association Haifa Israel
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- S. Vom Dahl
- Klinik für Gastroenterologie, Hepatologie und Infektiologie Universitätsklinikum der Heinrich‐Heine‐Universität Düsseldorf Germany
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- D. Elstein
- Gaucher Clinic Shaare Zedek Medical Center Jerusalem Israel
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- A. Erikson
- Department of Paediatrics Umea University Hospital Umea Sweden
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- M. Giralt
- Jefe del Servicio de Hematologia Hospital ‘Miguel Servet’ Zaragoza Spain
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- R. Heitner
- Johannesburg Hospital, Department of Paediatrics University of Witwatersrand South Africa
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- C. Hollak
- Department of Internal Medicine and Haematology Academic Medical Centre Amsterdam The Netherlands
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- M. Hrebicek
- Institute of Inherited Metabolic Disorders Prague Czech Republic
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- S. Lewis
- Gauchers Association London UK
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- A. Mehta
- Department of Haematology Royal Free Hospital London UK
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- G. M. Pastores
- New York University School of Medicine New York USA
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- A. Rolfs
- Klinik für Neurologie und Poliklinik Universität Rostock Rostock Germany
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- M. C. Sa Miranda
- Instituto de Genetica Medica Porto Portugal
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- A. Zimran
- Gaucher Clinic, Department of Medicine Shaare Zedek Medical Center Jerusalem Israel
抄録
<jats:title>Abstract</jats:title><jats:p><jats:italic>N</jats:italic>‐Butyldeoxynojirimycin (NB‐DNJ, miglustat ‘Zavesca’) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical trials of NB‐DNJ in patients with Gaucher's disease demonstrate the therapeutic potential of such substrate inhibitors in the glycolipid storage disorders. However, macrophage‐targetted enzyme replacement using intravenous mannose‐terminated human glucocerebrosidase (imiglucerase, Cerezyme) is highly effective in ameliorating many of the manifestations of Gaucher's disease and is a treatment in widespread use. Given that imiglucerase and miglustat are now both licensed for the treatment of Gaucher's disease, there is a need to review their therapeutic status. Here the treatment of type 1 (non‐neuronopathic) Gaucher disease is evaluated with particular reference to the emerging role of oral <jats:italic>N</jats:italic>‐butyldeoxynojirimycin (miglustat) as a substrate‐reducing agent. This position statement represents the consensus viewpoint of an independent international advisory council to the European Working Group on Gaucher Disease.</jats:p>
収録刊行物
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- Journal of Inherited Metabolic Disease
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Journal of Inherited Metabolic Disease 26 (6), 513-526, 2003-09
Wiley
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詳細情報
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- CRID
- 1363107369790448128
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- NII論文ID
- 30012218489
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- ISSN
- 15732665
- 01418955
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