The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Author:

Hendriksz Christian J.12,Anheim Mathieu3,Bauer Peter45,Bonnot Olivier6,Chakrapani Anupam7,Corvol Jean-Christophe8,de Koning Tom J.9,Degtyareva Anna10,Dionisi-Vici Carlo11,Doss Sarah12,Duning Thomas13,Giunti Paola14,Iodice Rosa15,Johnston Tracy16,Kelly Dierdre17,Klünemann Hans-Hermann18,Lorenzl Stefan1920,Padovani Alessandro21,Pocovi Miguel22,Synofzik Matthis2324,Terblanche Alta2,Then Bergh Florian25,Topçu Meral26,Tranchant Christine27,Walterfang Mark28,Velten Christian29,Kolb Stefan A.29

Affiliation:

1. Salford Royal NHS Foundation Trust, Manchester, UK;

2. University of Pretoria, Pretoria, South Africa;

3. University of Strasbourg, Hautepierre Hospital, Strasbourg, France;

4. Institute of Medical Genetics and Applied Genomics, Tübingen University, Tübingen, Germany;

5. CENTOGENE AG, Rostock, Germany;

6. CHU and University of Nantes, Nantes, France;

7. Great Ormond St Hospital for Children, London, UK;

8. Sorbonne University, UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases, Paris, France;

9. University of Groningen, Groningen, the Netherlands;

10. Federal State Budget Institution, Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia;

11. Bambino Gesù Children’s Hospital, Rome, Italy;

12. Charite University Medicine Berlin, Department of Neurology, Berlin, Germany;

13. Münster University Hospital, Münster, Germany;

14. University College London, Institute of Neurology, London, UK;

15. University Federico II Naples, Naples, Italy;

16. Birmingham Women’s Hospital, Birmingham, UK;

17. Birmingham Children’s Hospital, Birmingham, UK;

18. University Clinic for Psychiatry and Psychotherapy, Regensburg University, Regensburg, Germany;

19. Ludwig Maximillian University, Munich, Germany;

20. Paracelus Medical University, Salzburg, Austria;

21. Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy;

22. University of Zaragoza, IISA, Zaragoza, Spain;

23. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany;

24. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany;

25. University of Leipzig, Department of Neurology, Leipzig, Germany;

26. Hacettepe University Children’s Hospital, Ankara, Turkey;

27. CHU Strasburg, Strasburg, France;

28. Royal Melbourne Hospital, Melbourne, Australia;

29. Actelion Pharmaceuticals Ltd, Allschwil, Switzerland

Publisher

Informa UK Limited

Subject

General Medicine

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3