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
  • [41] Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency
    Panlaqui, Ogee Mer
    Tran, Khoa
    Johns, Amanda
    McGill, Jim
    White, Hayden
    INTENSIVE CARE MEDICINE, 2008, 34 (10) : 1922 - 1924
  • [42] Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil
    Sumi, S
    Matsuura, T
    Kidouchi, K
    Togari, H
    Kubota, M
    Kitou, O
    Mikami, H
    Ohura, T
    Matsuda, I
    Wada, Y
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2000, 6 (02) : 177 - 180
  • [43] Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report
    Kadono, Shin
    Miyawaki, Dai
    Goto, Ayako
    Hirai, Kaoru
    Sakamoto, Shoko
    Hama, Hiroki
    Nishiura, Sayaka
    Hamazaki, Takashi
    Inoue, Koki
    MEDICINE, 2023, 102 (08)
  • [44] Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency
    Plöchl, W
    Plöchl, E
    Pokorny, H
    Kozek-Langenecker, S
    Zacherl, J
    Stöckler-Ipsiroglu, S
    Wermuth, B
    Spiss, CK
    Mühlbacher, F
    TRANSPLANT INTERNATIONAL, 2001, 14 (03) : 196 - 201
  • [45] PROPORTIONS OF SPONTANEOUS MUTATIONS IN MALES AND FEMALES WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    TUCHMAN, M
    MATSUDA, I
    MUNNICH, A
    MALCOLM, S
    STRAUTNIEKS, S
    BRIEDE, T
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (01): : 67 - 70
  • [46] DIRECT AND INDIRECT MUTATION ANALYSES IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    LIECHTIGALLATI, S
    DIONISI, C
    BACHMANN, C
    WERMUTH, B
    COLOMBO, JP
    ENZYME, 1991, 45 (1-2) : 81 - 91
  • [47] Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency
    Koya, Yudai
    Shibata, Michihiko
    Senju, Michio
    Honma, Yuichi
    Hiura, Masaaki
    Ishii, Masahiro
    Matsumoto, Shirou
    Harada, Masan
    INTERNAL MEDICINE, 2019, 58 (07) : 937 - 942
  • [48] Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier
    Al-Haggar, Mohammad
    Largiader, Carlo R.
    Abdel-Hady, Dina
    Barakat, Tank
    Nuoffer, Jean-Marc
    Al-Refaei, Abdel-Aziz
    INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, 2014, 124 (02) : 174 - 175
  • [49] Repeated management of a woman with ornithine transcarbamylase deficiency in two pregnancies
    Suzuki, Tomo
    Sasaki, Aiko
    Umehara, Nagayoshi
    Ito, Yushi
    Horikawa, Reiko
    Sago, Haruhiko
    PEDIATRICS INTERNATIONAL, 2024, 66 (01)
  • [50] Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency
    Ogee Mer Panlaqui
    Khoa Tran
    Amanda Johns
    Jim McGill
    Hayden White
    Intensive Care Medicine, 2008, 34 : 1922 - 1924
12345