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
来源：
NEUROPEDIATRICS | 1998年 / 29卷 / 06期
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
  • [31] CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: Case report
    Bajaj, SK
    Kurlemann, G
    Schuierer, GS
    Peters, PE
    NEURORADIOLOGY, 1996, 38 (08) : 796 - 799
  • [32] Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
    Pinho, Gabriella
    Ross, Gabriela
    Krishnamoorthy, Kaila
    Kresge, Christina
    Shih, Ling Yu
    Apuzzio, Joseph J.
    Williams, Shauna F.
    CASE REPORTS IN WOMENS HEALTH, 2022, 34
  • [33] Lethal ornithine transcarbamylase deficiency in a female neonate: a new case
    Klosowski, S
    Largilliere, C
    Storme, L
    Rakza, T
    Rabier, D
    Lequien, P
    ACTA PAEDIATRICA, 1998, 87 (02) : 227 - 228
  • [34] CARNITINE DEFICIENCY ASSOCIATED WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    MAYATEPEK, E
    KURCZYNSKI, TW
    HOPPEL, CL
    GUNNING, WT
    PEDIATRIC NEUROLOGY, 1991, 7 (03) : 196 - 199
  • [35] PROPIONIC ACIDEMIA AND HYPERLYSINEMIA IN A CASE WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
    KRIEGER, I
    BACHMANN, C
    GRONEMEYER, WH
    CEJKA, J
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1976, 43 (04): : 796 - 802
  • [36] Neurotoxic Effects of Ammonia in a Patient With Ornithine Transcarbamylase Deficiency and Bilateral Brain Abscesses: Case Report
    Sayyahmelli, Sima
    Sayyahmelli, Sara
    Erginoglu, Ufuk
    Baskaya, Mustafa K.
    NEUROHOSPITALIST, 2021, 11 (03): : 241 - 245
  • [37] Ornithine transcarbamylase deficiency diagnosed in pregnancy
    Celik, Ozlem
    Buyuktas, Deram
    Aydin, Ahmet
    Acbay, Ozer
    GYNECOLOGICAL ENDOCRINOLOGY, 2011, 27 (12) : 1052 - 1054
  • [38] IMMUNOCHEMICAL ANALYSES IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    MCREYNOLDS, JW
    ROSENBERG, LE
    PEDIATRIC RESEARCH, 1977, 11 (04) : 460 - 460
  • [39] Gene therapy for ornithine transcarbamylase deficiency
    Kiwaki, K
    Matsuda, I
    ACTA PAEDIATRICA JAPONICA, 1996, 38 (02): : 189 - 192
  • [40] Gemcitabine/oxaliplatinHyperammonaemia encephalopathy, aggravation of acquired ornithine transcarbamylase deficiency and hypersensitivity reaction: case report
    Reactions Weekly, 2017, 1636 (1) : 154 - 154
12345