Baseline data from a prospective international disease registry for Niemann-Pick disease type C

被引:0
|
作者
Patterson, Marc [1 ]
Mengel, Eugen [2 ]
Wraith, Ed [3 ]
Wijburg, Frits [4 ]
Vanier, Marie [5 ]
Schwierin, Barbara [6 ]
Muller, Audrey [6 ]
Silkey, Mariabeth [6 ]
Giorgino, Ruben [6 ]
Pineda, Mercedes [7 ]
机构
[1] Mayo Clin, Rochester, MN USA
[2] Johannes Gutenberg Univ Mainz, Mainz, Germany
[3] St Marys Hosp, Acad Hlth Sci Ctr, Manchester M13 0JH, Lancs, England
[4] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
[5] INSERM, U820, F-69008 Lyon, France
[6] Actel Pharmaceut Ltd, Allschwil, Switzerland
[7] Hosp St Joan de Deu, Barcelona, Spain
关键词
D O I
10.1016/j.ymgme.2010.11.115
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S34 / S34
页数:1
相关论文
共 50 条
  • [1] Data update from the International Disease Registry for Niemann-Pick disease type C
    Pineda, M.
    Mengel, E.
    Wraith, J. E.
    Wijburg, F. A.
    Vanier, M. T.
    Schwierin, B.
    Muller, A.
    Silkey, M.
    Giorgino, R.
    Patterson, M. C.
    JOURNAL OF NEUROLOGY, 2011, 258 : 165 - 166
  • [2] PRELIMINARY DATA FROM AN INTERNATIONAL DISEASE REGISTRY FOR NIEMANN-PICK DISEASE TYPE C
    Pineda, M.
    Mengel, E.
    Wraith, J. E.
    Wijburg, F. A.
    Vanier, M. T.
    Schwierin, B.
    Muller, A.
    Silkey, M.
    Giorgino, R.
    Patterson, M. C.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S146 - S146
  • [3] Longitudinal data from the international registry for Niemann-Pick disease type C (NPC)
    Patterson, Marc C.
    Mengel, Eugen
    Wijburg, Frits A.
    Vanier, Marie T.
    Schwierin, Barbara
    Muller, Audrey
    Drevon, Harir
    Pineda, Merce
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S85 - S85
  • [4] Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
    Bolton, Shaun C.
    Soran, Vina
    Marfa, Mercedes Pineda
    Imrie, Jackie
    Gissen, Paul
    Jahnova, Helena
    Sharma, Reena
    Jones, Simon
    Santra, Saikat
    Crushell, Ellen
    Stampfer, Miriam
    Coll, Maria Jose
    Dawson, Charlotte
    Mathieson, Toni
    Green, James
    Dardis, Andrea
    Bembi, Bruno
    Patterson, Marc C.
    Vanier, Marie T.
    Geberhiwot, Tarekegn
    ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)
  • [5] Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
    Shaun C. Bolton
    Vina Soran
    Mercedes Pineda Marfa
    Jackie Imrie
    Paul Gissen
    Helena Jahnova
    Reena Sharma
    Simon Jones
    Saikat Santra
    Ellen Crushell
    Miriam Stampfer
    Maria Jose Coll
    Charlotte Dawson
    Toni Mathieson
    James Green
    Andrea Dardis
    Bruno Bembi
    Marc C. Patterson
    Marie T. Vanier
    Tarekegn Geberhiwot
    Orphanet Journal of Rare Diseases, 17
  • [6] Designing a disease registry for Niemann-Pick disease type C
    Pineda, M.
    Wraith, J. E.
    Wijburg, F.
    Mengel, E.
    Vanier, M. T.
    Schwierin, B.
    Giorgino, R.
    Patterson, M.
    JOURNAL OF NEUROLOGY, 2009, 256 : S91 - S91
  • [7] DESIGNING A DISEASE REGISTRY FOR NIEMANN-PICK DISEASE TYPE C
    Pineda, M.
    Wraith, J. E.
    Wijburg, F. A.
    Mengel, E.
    Vanier, M. T.
    Schwierin, B.
    Giorgino, R.
    Patterson, M. C.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 60 - 60
  • [8] INTERNATIONAL DISEASE REGISTRY FOR NIEMANN-PICK DISEASE TYPE C IN CLINICAL PRACTICE: AN UPDATE
    Mengel, E.
    Patterson, M. C.
    Wijburg, F. A.
    Wraith, J. E.
    Vanier, M. T.
    Schwierin, B.
    Muller, A.
    Chadha-Boreham, H.
    Pineda, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S219 - S219
  • [9] Longitudinal outcomes from the international disease registry for Niemann-Pick disease type C (NP-C)
    Pineda, M.
    Mengel, E.
    Vanier, M. T.
    Schwierin, B.
    Muller, A.
    Cornelisse, P.
    Patterson, M. C.
    EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 361 - 361
  • [10] Longitudinal outcomes from the international disease registry for Niemann-Pick disease type C (NP-C)
    Pineda, M.
    Mengel, E.
    Vanier, M. T.
    Schwierin, B.
    Muller, A.
    Cornelisse, P.
    Patterson, M. C.
    JOURNAL OF NEUROLOGY, 2014, 261 : S243 - S243