Mitochondrial diagnosis revisited

被引:3
|
作者
Lagan, N. C. [1 ]
Gorman, K. M. [1 ]
King, M. D. [1 ,2 ]
机构
[1] Childrens Univ Hosp, Dept Neurol & Clin Neurophysiol, Temple St, Dublin 1, Ireland
[2] Univ Coll Dublin, Sch Med & Med Sci, Acad Ctr Rare Dis, Dublin, Ireland
关键词
Mitochondrial; DOORS; TBC1D24; Whole exome sequencing; DEFICIENCY;
D O I
10.1016/j.ejpn.2017.03.004
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:685 / 686
页数:2
相关论文
共 50 条
  • [41] Diagnosis and Treatment of Mitochondrial Myopathies
    Ahmed, Syeda T.
    Craven, Lyndsey
    Russell, Oliver M.
    Turnbull, Doug M.
    Vincent, Amy E.
    NEUROTHERAPEUTICS, 2018, 15 (04) : 943 - 953
  • [42] DIAGNOSIS AND THERAPY OF MITOCHONDRIAL DISEASES
    Pal Endre
    IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE, 2012, 65 (7-8): : 229 - 237
  • [43] Diagnosis and management of mitochondrial diseases
    Gillis, L
    Kaye, E
    PEDIATRIC CLINICS OF NORTH AMERICA, 2002, 49 (01) : 203 - +
  • [44] Biochemical diagnosis of mitochondrial disorders
    Rodenburg, Richard J. T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (02) : 283 - 292
  • [45] Diagnosis and treatment of mitochondrial myopathies
    Pfeffer, Gerald
    Chinnery, Patrick F.
    ANNALS OF MEDICINE, 2013, 45 (01) : 4 - 16
  • [46] Strategy in diagnosis of mitochondrial diseases
    Lebre, A. -S.
    PATHOLOGIE BIOLOGIE, 2010, 58 (05): : 353 - 356
  • [47] Diagnosis and Treatment of Mitochondrial Myopathies
    Syeda T. Ahmed
    Lyndsey Craven
    Oliver M. Russell
    Doug M. Turnbull
    Amy E. Vincent
    Neurotherapeutics, 2018, 15 : 943 - 953
  • [48] The diagnosis of mitochondrial muscle disease
    Taylor, RW
    Schaefer, AM
    Barron, MJ
    McFarland, R
    Turnbull, DM
    NEUROMUSCULAR DISORDERS, 2004, 14 (04) : 237 - 245
  • [49] DIAGNOSIS OF MITOCHONDRIAL ENCEPHALOMYOPATHIES - REPLY
    HOLME, E
    LARSSON, NG
    OLDFORS, A
    TULINIUS, M
    JOURNAL OF PEDIATRICS, 1992, 121 (01): : 167 - 168
  • [50] SALICYLISM REVISITED - UNUSUAL PROBLEMS IN DIAGNOSIS AND MANAGEMENT
    SURAPATHANA, LO
    FUTRAKUL, P
    CAMPBELL, RA
    CLINICAL PEDIATRICS, 1970, 9 (11) : 658 - +