user

Mitochondrial diseases

被引：0
|
作者：
Nagel, JD
Haverkamp, F
Lentze, MJ
机构：
来源：
KLINISCHE PADIATRIE | 1997年 / 209卷 / 06期
关键词：
mitochondrial diseases; review; screening; symptoms;
D O I：
10.1055/s-2008-1043974
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Mitochondrial diseases are a heterogenous group, combining multiple symptoms resulting from defects in various organs. Thus identification of a particular mitochondrial disease due to clinical symptoms is not possible. However, simple biochemical tests can provide guiding and reliable results quickly. We present a classification of the mitochondrial diseases, describing important clinical symptoms and explaining a diagnostic plan to identify defects of biochemical mitochondrial pathways.
引用
收藏
页码：345 / 356
页数：12
相关论文
共 50 条
  • [1] Mitochondrial diseases
    DiMauro, S
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1658 (1-2): : 80 - 88
  • [2] Mitochondrial diseases
    Gorman, Grainne S.
    Chinnery, Patrick F.
    DiMauro, Salvatore
    Hirano, Michio
    Koga, Yasutoshi
    McFarland, Robert
    Suomalainen, Anu
    Thorburn, David R.
    Zeviani, Massimo
    Turnbull, Douglass M.
    [J]. NATURE REVIEWS DISEASE PRIMERS, 2016, 2 : 1 - 22
  • [3] Mitochondrial diseases
    Enrique Miguel-Soca, Pedro
    [J]. REVISTA DE NEUROLOGIA, 2014, 58 (06) : 288 - 288
  • [4] Mitochondrial diseases
    Radelfahr, Florentine
    Klopstock, Thomas
    [J]. NERVENARZT, 2019, 90 (02): : 121 - 130
  • [5] Mitochondrial diseases
    Gráinne S. Gorman
    Patrick F. Chinnery
    Salvatore DiMauro
    Michio Hirano
    Yasutoshi Koga
    Robert McFarland
    Anu Suomalainen
    David R. Thorburn
    Massimo Zeviani
    Douglass M. Turnbull
    [J]. Nature Reviews Disease Primers, 2
  • [6] Mitochondrial Diseases
    Klopstock, T.
    Abicht, A.
    Meitinger, T.
    [J]. MEDIZINISCHE GENETIK, 2012, 24 (03): : 160 - 161
  • [7] MITOCHONDRIAL DISEASES
    ZEVIANI, M
    BONILLA, E
    DEVIVO, DC
    DIMAURO, S
    [J]. NEUROLOGIC CLINICS, 1989, 7 (01) : 123 - 156
  • [8] Mitochondrial diseases
    Vu, TH
    Hirano, M
    DiMauro, S
    [J]. NEUROLOGIC CLINICS, 2002, 20 (03) : 809 - +
  • [9] Mitochondrial diseases
    Schapira, Anthony H. V.
    [J]. LANCET, 2012, 379 (9828): : 1825 - 1834
  • [10] Mitochondrial diseases
    Schapira, A. H. V.
    [J]. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2013, 43 : 1 - 1
12345