The role of the iminosugarN-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement-Reference-Cited by-同舟云学术

The role of the iminosugarN-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement

Published:2003-09 Issue:6 Volume:26 Page:513-526
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Cox T. M.¹²,Aerts J. M. F. G.³,Andria G.⁴,Beck M.⁵,Belmatoug N.⁶,Bembi B.⁷,Chertkoff R.⁸,Vom Dahl S.⁹,Elstein D.¹⁰,Erikson A.¹¹,Giralt M.¹²,Heitner R.¹³,Hollak C.¹⁴,Hrebicek M.¹⁵,Lewis S.¹⁶,Mehta A.¹⁷,Pastores G. M.¹⁸,Rolfs A.¹⁹,Sa Miranda M. C.²⁰,Zimran A.²¹

Affiliation:

1. ; Department of Medicine; University of Cambridge, Addenbrooke's Hospital; Cambridge UK

2. ; Department of Medicine; University of Cambridge; Box 157, Addenbrooke's Hospital Cambridge CB2 2QQ UK

3. ; Department of Biochemistry, Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

4. ; Department of Paediatrics; Federico II University; Naples Italy

5. ; Biochemisch-Genetisches Labor; Universitats-Kinderklinik; Mainz Germany

6. ; Hôpital Beaujon; Clichy France

7. ; Istituto per l'Infanzia Burlo Garofolo; Trieste Italy

8. Israeli Gaucher Patients Association; Haifa Israel

9. ; Klinik für Gastroenterologie, Hepatologie und Infektiologie; Universitätsklinikum der Heinrich-Heine-Universität; Düsseldorf Germany

10. ; Gaucher Clinic; Shaare Zedek Medical Center; Jerusalem Israel

11. ; Department of Paediatrics; Umea University Hospital; Umea Sweden

12. ; Jefe del Servicio de Hematologia; Hospital ‘Miguel Servet’; Zaragoza Spain

13. ; Johannesburg Hospital, Department of Paediatrics; University of Witwatersrand; South Africa

14. ; Department of Internal Medicine and Haematology; Academic Medical Centre; Amsterdam The Netherlands

15. Institute of Inherited Metabolic Disorders; Prague Czech Republic

16. Gauchers Association; London UK

17. ; Department of Haematology; Royal Free Hospital; London UK

18. ; New York University School of Medicine; New York USA

19. ; Klinik für Neurologie und Poliklinik; Universität Rostock; Rostock Germany

20. ; Instituto de Genetica Medica; Porto Portugal

21. ; Gaucher Clinic, Department of Medicine; Shaare Zedek Medical Center; Jerusalem Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1025902113005/fullpdf

Reference46 articles.

1. Replacement therapy for inherited enzyme deficiency macrophage-targeted glucocerebrosidase for Gaucher disease;Barton;N Engl J Med,1991

2. Effect of low dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement: commentary;Beutler;Blood Cells Mol Dis,1996

3. Mutation update. Glucocerebrosidase (Gaucher disease);Beutler;Hum Mutat,1996

Cited by 212 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases;Proceedings of the National Academy of Sciences;2024-08-16

2. Selective labelling of GBA2 in cells with fluorescent β-d-arabinofuranosyl cyclitol aziridines;Chemical Science;2024

3. Nanomedicines to treat rare neurological disorders: The case of Krabbe disease;Advanced Drug Delivery Reviews;2023-12

4. Restoration of β‐GC trafficking improves the lysosome function in Gaucher disease;Traffic;2023-07-25

5. Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications;Journal of Clinical Medicine;2022-11-24