A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

被引：0
|
作者：
Quinzii, CM
Naini, A
Salviati, L
Trevisson, E
Navas, P
DiMauro, S
Hirano, M
机构：
来源：
NEUROLOGY | 2006年 / 66卷 / 05期
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：
引用
收藏
页码：A127 / A127
页数：1
相关论文
共 50 条
  • [21] Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency
    Chavira-Hernandez, Gerardo
    Pina-Aviles, Carlos Eduardo
    Zuniga-Ramirez, Carlos
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 : S41 - S44
  • [22] Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies
    Fatih Ozaltin
    Pediatric Nephrology, 2014, 29 : 961 - 969
  • [23] Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies
    Ozaltin, Fatih
    PEDIATRIC NEPHROLOGY, 2014, 29 (06) : 961 - 969
  • [24] PRIMARY COENZYME Q10 DEFICIENCY-6 (COQ10D6): CASE REPORT
    Yildirim, Zeynep Yuruk
    Nayir, Ahmet
    Uyguner, Oya
    Toksoy, Guven
    Yavuz, Sevgi
    Altunoglu, Umut
    Turkkan, Ozde Nisa
    Sevinc, Burcu
    Gokcay, Gulden
    Gunes, Dilek Kurkcu
    Kiyak, Aysel
    Yilmaz, Alev
    PEDIATRIC NEPHROLOGY, 2017, 32 (09) : 1763 - 1763
  • [25] Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency
    Desbats, Maria Andrea
    Lunardi, Giada
    Doimo, Mara
    Trevisson, Eva
    Salviati, Leonardo
    JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (01) : 145 - 156
  • [26] Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
    Hojabri, Mahsa
    Gilani, Abolfazl
    Irilouzadian, Rana
    Biglari, Habibe Nejad
    Sarmadian, Roham
    CLINICAL MEDICINE INSIGHTS-CASE REPORTS, 2023, 16
  • [27] Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
    Hojabri, Mahsa
    Gilani, Abolfazl
    Irilouzadian, Rana
    Biglari, Habibe Nejad
    Sarmadian, Roham
    CLINICAL MEDICINE INSIGHTS-CASE REPORTS, 2023, 16
  • [28] The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: A systematic review
    Wang, Ying
    Hekimi, Siegfried
    JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2022, 26 (17) : 4635 - 4644
  • [29] Evaluation of Coenzyme Q10 (CoQ10) Deficiency and Therapy in Mouse Models of Cardiomyopathy
    Pu, Tian-Tian
    Wu, Wei
    Liang, Pei-Da
    Du, Jin-Chan
    Han, Sheng-Li
    Deng, Xiu-Ling
    Du, Xiao-Jun
    JOURNAL OF CARDIOVASCULAR PHARMACOLOGY, 2023, 81 (04) : 259 - 269
  • [30] Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
    Montero, Raquel
    Sanchez-Alcazar, Jose Antonio
    Briones, Paz
    Hernandez, Angeles Rodriguez
    Cordero, Mario D.
    Trevisson, Eva
    Salviati, Leonardo
    Pineda, Merce
    Garcia-Cazorla, Angels
    Navas, Placido
    Artuch, Rafael
    CLINICAL BIOCHEMISTRY, 2008, 41 (09) : 697 - 700
12345