GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND NEURORADIOLOGICAL FEATURES

被引:69
|
作者
AMIR, N
ELPELEG, O
SHALEV, RS
CHRISTENSEN, E
机构
[1] BIKUR CHOLIM HOSP,DEPT PEDIAT,JERUSALEM,ISRAEL
[2] RIGSHOSP,METAB LAB,CLIN GENET SECT,DK-2100 COPENHAGEN O,DENMARK
关键词
D O I
10.1212/WNL.37.10.1654
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:1654 / 1657
页数:4
相关论文
共 50 条
  • [41] Diagnosis and management of glutaric aciduria type I
    Baric, I
    Zschocke, J
    Christensen, E
    Duran, M
    Goodman, SI
    Leonard, JV
    Müller, E
    Morton, DH
    Superti-Furga, A
    Hoffmann, GF
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (04) : 326 - 340
  • [42] Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I
    Hauser, SEP
    Boneh, A
    NEUROPEDIATRICS, 1999, 30 (01) : 51 - 52
  • [43] Glutaric aciduria type I: A treatable neurometabolic disorder
    Kamate, Mahesh
    Patil, Vishwanath
    Chetal, Vivek
    Darak, Pavan
    Hattiholi, Virupaxi
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2012, 15 (01) : 31 - 34
  • [44] Dystonia and choreoathetosis after glutaric aciduria type I
    Bidabadi, E
    MOVEMENT DISORDERS, 2004, 19 : S77 - S77
  • [45] Subdural haematoma in a child with glutaric aciduria type I
    Martin Köhler
    Georg F. Hoffmann
    Pediatric Radiology, 1998, 28 : 582 - 582
  • [46] Glutaric aciduria (type I): prenatal ultrasonographic findings
    Lin, SK
    Hsu, SG
    Ho, ESC
    Tsai, CR
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2002, 20 (03) : 305 - 307
  • [47] Guideline for the diagnosis and management of glutaric aciduria type I
    Koelker, S.
    Christensen, E.
    Leonard, J., V
    Greenberg, C. R.
    Burlina, A. B.
    Burlina, A. P.
    Dixon, M.
    Duran, M.
    Goodman, S., I
    Koeller, D. M.
    Muehlhausen, C.
    Mueller, E.
    Naughten, E. R.
    Neumaier-Probst, E.
    Okun, J. G.
    Kyllerman, M.
    Surtees, R. A.
    Wilcken, B.
    Hoffmann, G. F.
    Burgard, P.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 19 - 19
  • [48] The unsolved puzzle of neuropathogenesis in glutaric aciduria type I
    Jafari, Paris
    Braissant, Olivier
    Bonafe, Luisa
    Ballhausen, Diana
    MOLECULAR GENETICS AND METABOLISM, 2011, 104 (04) : 425 - 437
  • [49] Subdural haematoma in a child with glutaric aciduria type I
    Kohler, M
    Hoffmann, GF
    PEDIATRIC RADIOLOGY, 1998, 28 (08) : 582 - 582
  • [50] Audiological and otologic manifestations of glutaric aciduria type I
    Chen, Yen-Chi
    Huang, Chii-Yuan
    Lee, Yen-Ting
    Wu, Chia-Hung
    Chang, Sheng-Kai
    Cheng, Hsiu-Lien
    Chang, Po-Hsiung
    Niu, Dau-Ming
    Cheng, Yen-Fu
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)