Vestibular function in patients with Niemann-Pick type C disease

被引:0
|
作者
Bremova, T. [1 ]
Krafczyk, S. [1 ]
Bardins, S. [1 ]
Mengel, E. [2 ]
Reinke, J. [2 ]
Strupp, M. [1 ]
机构
[1] Univ Munich, German Ctr Vertigo & Balance Disorders, Munich, Germany
[2] Johannes Gutenberg Univ Mainz, Ctr Paediat & Adolescent Med, Univ Med Ctr, Dept Lysosomal Storage Disorder 4, Mainz, Germany
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P21217
引用
收藏
页码:453 / 453
页数:1
相关论文
共 50 条
  • [21] 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)
  • [22] 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
  • [23] Quality of life in patients with Niemann-Pick disease type C and their carers
    Pountney, Jackson
    Donnelly, Conan B.
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 106 - 106
  • [24] Effects of cyclodextrin in two patients with Niemann-Pick Type C disease
    Matsuo, Muneaki
    Togawa, Masami
    Hirabaru, Keiko
    Mochinaga, Sakiko
    Narita, Aya
    Adachi, Masao
    Egashira, Masakazu
    Irie, Tetsumi
    Ohno, Kousaku
    MOLECULAR GENETICS AND METABOLISM, 2013, 108 (01) : 76 - 81
  • [25] Niemann-Pick disease type C: Characteristics of five Brazilian patients
    Lorenzoni, P. J.
    Teive, H. A. G.
    Munhoz, R. P.
    Crippa, A. C. S.
    Werneck, L. C.
    Cardoso, E. H.
    Bruck, I.
    Lourenco, C.
    Scola, R. H.
    MOVEMENT DISORDERS, 2012, 27 : S68 - S68
  • [26] Characterization of central manifestations in patients with Niemann-Pick disease type C
    van Gool, Raquel
    Golden, Emma
    Goodlett, Benjamin
    Zhang, Fan
    Vogel, Adam P.
    Tourville, Jason A.
    Yao, Kylie
    Cay, Mariesa
    Tiwari, Sneham
    Yang, Edward
    Zekelman, Leo R.
    Todd, Nick
    O'Donnell, Lauren J.
    Ren, Boyu
    Bodamer, Olaf A.
    Al-Hertani, Walla
    Upadhyay, Jaymin
    GENETICS IN MEDICINE, 2024, 26 (03)
  • [27] Niemann-Pick disease type C: a case series of Brazilian patients
    Lorenzoni, Paulo Jose
    Cardoso, Elaine
    Crippa, Ana C. S.
    Loureno, Charles Marques
    Seabra Souza, Fernanda Timm
    Giugliani, Roberto
    Saraiva-Pereira, Maria Luiza
    Raskin, Salmo
    Bruck, Isac
    Kay, Claudia S. K.
    Scola, Rosana H.
    Werneck, Lineu C.
    Teive, Helio A. G.
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2014, 72 (03) : 214 - 218
  • [28] Safety monitoring of miglustat in patients with Niemann-Pick disease type C
    Wraith, Ed
    Beck, Michael
    Imrie, Jackie
    Pineda, Merce
    Schwierin, Barbara
    Bembi, Bruno
    MOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) : S43 - S43
  • [29] New variants in Spanish Niemann-Pick type c disease patients
    Lopez de Frutos, Laura
    Cebolla, Jorge J.
    Aldamiz-Echevarria, Luis
    de la Vega, Angela
    Stanescu, Sinziana
    Lahoz, Carlos
    Irun, Pilar
    Giraldo, Pilar
    MOLECULAR BIOLOGY REPORTS, 2020, 47 (03) : 2085 - 2095
  • [30] Safety monitoring of miglustat in patients with Niemann-Pick disease type C
    Pineda, M.
    Wraith, J. E.
    Mengel, E.
    Imrie, J.
    Schwierin, B.
    Bembi, B.
    JOURNAL OF NEUROLOGY, 2009, 256 : S167 - S167