Acute Fatal Presentation of Adult-onset Ornithine Transcarbamylase (OTC) Deficiency

被引：0
|
作者：
Nayani, Rahul [1 ]
Siddique, Sameer [1 ]
Arif, Murtaza [1 ]
Hammad, Hazem [1 ]
Bechtold, Matthew [1 ]
Ibdah, Jamal [1 ]
Choudhary, Abhishek [1 ]
机构：
[1] Univ Missouri, Columbia, MO USA
来源：
AMERICAN JOURNAL OF GASTROENTEROLOGY | 2013年 / 108卷
关键词：
D O I：
10.14309/00000434-201310001-01186
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
1186
引用
收藏
页码：S349 / S349
页数：1
相关论文
共 50 条
  • [31] 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
  • [32] ATYPICAL PRESENTATION OF TWINS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    HOWARD, DS
    DESAI, NS
    AUER, JML
    SKINKER, DM
    PEDIATRIC RESEARCH, 1995, 37 (04) : A91 - A91
  • [33] CLINICAL MANIFESTATIONS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY [ OTC DEFICIENCY] ILLUSTRATED IN THE INDEX PATIENT
    Sinclair, L.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S93 - S93
  • [34] MOLECULAR STUDY OF ORNITHINE TRANSCARBAMYLASE - OTC DEFICIENCY AND ANALYSIS OF MITOCHONDRIAL TARGETING OF THE OTC PRECURSOR
    HORWICH, AL
    PEDIATRIC RESEARCH, 1987, 21 (04) : A6 - A6
  • [35] Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency
    Li, Sitao
    Cai, Yao
    Shi, Congcong
    Liu, Mengxian
    Liu, Bingqing
    Lin, Lin
    Xiao, Xin
    Hao, Hu
    MEDICAL SCIENCE MONITOR, 2018, 24 : 7431 - 7437
  • [36] Hyperammonaemic coma after valproate therapy as adult onset of ornithine transcarbamylase deficiency
    Padilla, MD
    Miguélez, M
    Riverola, A
    Bueno, J
    MEDICINA CLINICA, 2002, 118 (05): : 199 - 199
  • [37] Ornithine transcarbamylase deficiency of a male newborn with fatal outcome
    Hartung, Benno
    Temme, Oliver
    Neuen-Jacob, Eva
    Ritz-Timme, Stefanie
    Hinderhofer, Katrin
    Daldrup, Thomas
    INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2016, 130 (03) : 783 - 785
  • [38] Ornithine transcarbamylase deficiency of a male newborn with fatal outcome
    Benno Hartung
    Oliver Temme
    Eva Neuen-Jacob
    Stefanie Ritz-Timme
    Katrin Hinderhofer
    Thomas Daldrup
    International Journal of Legal Medicine, 2016, 130 : 783 - 785
  • [39] Plasma citrulline is rarely low even during acute presentation in mild, late onset ornithine transcarbamylase deficiency
    Carpenter, K. H.
    Sim, K.
    Blakeman, E.
    Wilcken, B.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 84 - 84
  • [40] Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma
    Gaspari, R
    Arcangeli, A
    Mensi, S
    Wismayer, DS
    Tartaglione, T
    Antuzzi, D
    Conti, G
    Proietti, R
    ANNALS OF EMERGENCY MEDICINE, 2003, 41 (01) : 104 - 109
12345