Quality of life in patients with Niemann-Pick disease type C and their carers

被引：0
|
作者：
Pountney, Jackson [1 ]
Donnelly, Conan B. [2 ]
机构：
[1] Aston Univ, Sch Psychol, Birmingham, England
[2] Int Niemann Pick Dis Registry, Newcastle, NSW, Australia
来源：
MOLECULAR GENETICS AND METABOLISM | 2023年 / 138卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2022.107275
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
292
引用
收藏
页码：106 / 106
页数：1
相关论文
共 50 条
  • [21] Niemann-Pick; Type C
    Patterson, MC
    Pentchev, PG
    NEUROLOGY, 1996, 46 (06) : 1785 - 1786
  • [22] 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)
  • [23] 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
  • [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] Spiral Analysis in Niemann-Pick Disease Type C
    Hsu, Annie W.
    Piboolnurak, Panida A.
    Floyd, Alicia G.
    Yu, Qiping P.
    Wraith, James E.
    Patterson, Marc C.
    Pullman, Seth L.
    MOVEMENT DISORDERS, 2009, 24 (13) : 1984 - 1990
  • [26] Neurodegeneration in Niemann-Pick type C disease mice
    Ong, WY
    Kumar, U
    Switzer, RC
    Sidhu, A
    Suresh, G
    Hu, CY
    Patel, SC
    EXPERIMENTAL BRAIN RESEARCH, 2001, 141 (02) : 218 - 231
  • [27] Altered neurosteroidogenesis in Niemann-Pick type C disease
    Griffin, LD
    Compagnone, N
    Mellon, S
    ANNALS OF NEUROLOGY, 1998, 44 (03) : 471 - 471
  • [28] THEORETICAL APPROACH TO THE NIEMANN-PICK TYPE C DISEASE
    Pardo Echeverria, Liz Carolina
    CULTURA CIENTIFICA, 2016, (14): : 82 - 90
  • [29] 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)
  • [30] 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
12345