Ornithine transcarbamylase deficiency: A case report

被引:1
|
作者
Martland, T
Mbamali, AC
Rittey, C
Tanner, S
Bonham, JR
Griffiths, PD
机构
[1] Ryegate Childrens Ctr, Sheffield S10 5DD, S Yorkshire, England
[2] Royal Hallamshire Hosp, Acad Dept Radiol, Sheffield S10 2JF, S Yorkshire, England
[3] Childrens Hosp, Sheffield S10 2TH, S Yorkshire, England
[4] Childrens Hosp, Dept Chem Pathol, Sheffield S10 2TH, S Yorkshire, England
关键词
ornithine transcarbamylase deficiency; urea cycle metabolism;
D O I
10.1055/s-2007-973590
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:331 / 332
页数:2
相关论文
共 50 条
  • [41] mRNA THERAPY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    Sablad, Marciano
    Bao, Yanjie
    Vega, Jerel
    Bhaskaran, Hari
    Perez-Garcia, Carlos
    Gonzalez, Jose
    Dam, Thanhchau
    Limphong, Patty
    Davis, Jared
    Karmali, Priya
    Parker, Suezanne
    Chivukula, Pad
    MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 298 - 298
  • [42] The molecular basis of ornithine transcarbamylase deficiency
    Tuchman, M
    McCullough, BA
    Yudkoff, M
    EUROPEAN JOURNAL OF PEDIATRICS, 2000, 159 (Suppl 3) : S196 - S198
  • [43] HYPERAMMONAEMIA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    HOPKINS, IJ
    CONNELLY, JF
    DAWSON, AG
    HIRD, FJR
    MADDISON, TG
    ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) : 143 - &
  • [44] Ornithine transcarbamylase deficiency: A diagnostic odyssey
    Knerr, Ina
    Cassiman, David
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (04) : 661 - 662
  • [45] Anesthetic implications of ornithine transcarbamylase deficiency
    Dutoit, Andrea P.
    Flick, Randall R.
    Sprung, Juraj
    Babovic-Vuksanovic, Dusica
    Weingarten, Toby N.
    PEDIATRIC ANESTHESIA, 2010, 20 (07) : 666 - 673
  • [46] CARRIER DETECTION IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    HAAN, EA
    DANKS, DM
    GRIMES, A
    HOOGENRAAD, NJ
    JOURNAL OF INHERITED METABOLIC DISEASE, 1982, 5 (01) : 37 - 40
  • [47] IMMUNOCHEMICAL STUDY OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    KODAMA, H
    NAGAYAMA, H
    SHIMOIZUMI, H
    OKABE, I
    KAMOSHITA, S
    JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (03) : 131 - 132
  • [48] Neurochemical pathology of ornithine transcarbamylase deficiency
    Butterworth, RF
    JOURNAL OF NEUROCHEMISTRY, 1997, 69 : S266 - S266
  • [49] The molecular basis of ornithine transcarbamylase deficiency
    Mendel Tuchman
    Beth A. McCullough
    Marc Yudkoff
    European Journal of Pediatrics, 2000, 159 : S196 - S198
  • [50] Ornithine transcarbamylase deficiency in adolescence and adulthood
    Buerle, M.
    Mende, H.
    Plum, U.
    Bluthardt, M.
    Walka, M.
    Geldner, G.
    ANAESTHESIST, 2009, 58 (06): : 594 - 601