Evaluation of suspicion index and plasma biomarkers as efficient tool in the diagnosis of Niemann-Pick disease type C

被引：0
|
作者：
Lopez de Frutos, Laura [1 ,2 ]
Alfonso, Pilar [1 ,2 ,3 ]
Cebolla, Jorge J. [1 ,2 ]
Irun, Pilar [2 ,3 ]
Giraldo, Pilar [1 ,2 ,3 ]
机构：
[1] Fdn Espanola Estudio & Terapeut Enfermedad Gauche, Zaragoza, Spain
[2] IIS Aragon, Zaragoza, Spain
[3] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Zaragoza, Spain
来源：
MOLECULAR GENETICS AND METABOLISM | 2016年 / 117卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2015.12.343
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
185
引用
收藏
页码：S75 / S75
页数：1
相关论文
共 50 条
  • [21] A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
    Mercedes Pineda
    Eugen Mengel
    Helena Jahnová
    Bénédicte Héron
    Jackie Imrie
    Charles M. Lourenço
    Vanessa van der Linden
    Parvaneh Karimzadeh
    Vassili Valayannopoulos
    Pavel Jesina
    Juan V. Torres
    Stefan A. Kolb
    BMC Pediatrics, 16
  • [22] A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
    Pineda, Mercedes
    Mengel, Eugen
    Jahnova, Helena
    Heron, Benedicte
    Imrie, Jackie
    Lourenco, Charles M.
    van der Linden, Vanessa
    Karimzadeh, Parvaneh
    Valayannopoulos, Vassili
    Jesina, Pavel
    Torres, Juan V.
    Kolb, Stefan A.
    BMC PEDIATRICS, 2016, 16
  • [23] Hope for Niemann-Pick type C disease
    Waldron, JS
    Parsa, AT
    NEUROSURGERY, 2004, 55 (03) : N8 - N8
  • [24] Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann-Pick disease type C disease
    Giugliani, Roberto
    Ribas, Graziela
    Civallero, Gabriel
    de Souzal, Heryk Motta
    Burin, Maira
    Michelin-Tirelli, Kristiane
    Saraiva-Pereira, Maria Luiza
    Polese-Bonatto, Marcia
    Gil, Mirela Severo
    Kessler, Rejane Gus
    Souza, Fernanda Timm
    Freitas, Talita
    Souza, Carolina
    Vairo, Filippo Pinto
    Rafaelli, Celio Luiz
    Trapp, Franciele Barbosa
    Vargas, Carmen Regla
    MOLECULAR GENETICS AND METABOLISM, 2015, 114 (02) : S47 - S48
  • [25] Identification and Evaluation of Biomarkers for Niemann-Pick Disease Type C Based on Chemical Analysis Techniques
    Maekawa, Masamitsu
    Mano, Nariyasu
    CHROMATOGRAPHY, 2020, 41 (01) : 19 - 29
  • [26] Cataplexy in Niemann-Pick disease type C
    Boor, R
    Reitter, B
    KLINISCHE PADIATRIE, 1997, 209 (02): : 88 - 90
  • [27] Therapies in the Niemann-Pick type C disease
    Chabrol, B.
    ARCHIVES DE PEDIATRIE, 2010, 17 : S54 - S57
  • [28] Therapy of Niemann-Pick disease, type C
    Patterson, MC
    Platt, F
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 2004, 1685 (1-3): : 77 - 82
  • [29] The diagnostic conundrum of niemann-pick disease type C (NPC) with heterogeneous clinical presentation: Evaluation of clinical use of the NPC suspicion index
    Kawazoe, T.
    Yamamoto, T.
    Narita, A.
    Mukai, T.
    Tasaki, A.
    Kanai, M.
    Matsumoto, C.
    Tsukamoto, T.
    Murata, M.
    Takahashi, Y.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 698 - 699
  • [30] PRENATAL-DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE-C
    DEWINTER, JM
    JANSE, HC
    VANDIGGELEN, OP
    LOS, FJ
    BEEMER, FA
    KLEIJER, WJ
    CLINICA CHIMICA ACTA, 1992, 208 (03) : 173 - 181
12345