Lethal ornithine transcarbamylase deficiency in a female neonate: a new case

被引:2
|
作者
Klosowski, S
Largilliere, C
Storme, L
Rakza, T
Rabier, D
Lequien, P
机构
[1] Ctr Hosp Reg & Univ Lille, Hop Jeanne de Flandre, Serv Med Neonatale, F-59037 Lille, France
[2] Ctr Hosp Reg & Univ Lille, Hop Jeanne de Flandre, Pediat Clin, F-59037 Lille, France
[3] Hop Necker Enfants Malad, Dept Biochim, F-75743 Paris 15, France
关键词
D O I
10.1080/08035259850157723
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:227 / 228
页数:2
相关论文
共 50 条
  • [1] LETHAL ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN A FEMALE NEONATE
    GIRGIS, N
    MCGRAVEY, V
    SHAH, BL
    HERRIN, J
    SHIH, VE
    JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (03) : 274 - 275
  • [2] A CASE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    KURAMITSU, M
    WAKIGUCHI, A
    WAKIGUCHI, H
    KURASHIGE, T
    KITAMURA, I
    TACHIBANA, T
    KOBAYASHI, K
    SAEKI, T
    BRAIN & DEVELOPMENT, 1985, 7 (02): : 232 - 232
  • [3] SEVERE ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN A FEMALE INFANT
    FUJIMOTO, A
    RAIJMAN, LJ
    WILSON, MG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1975, 27 (06) : A37 - A37
  • [4] Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency
    Enkai, S
    Yamamoto, M
    Hayashi, K
    Kobayashi, M
    Sasajima, T
    Amizuka, T
    Abo, W
    EUROPEAN JOURNAL OF PEDIATRICS, 2003, 162 (10) : 729 - 730
  • [5] Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency
    Shigehiro Enkai
    Masaki Yamamoto
    Kaori Hayashi
    Masaki Kobayashi
    Tomohiro Sasajima
    Takasuke Amizuka
    Wataru Abo
    European Journal of Pediatrics, 2003, 162 : 729 - 730
  • [6] An autopsy case of ornithine transcarbamylase deficiency
    Yamanouchi, H
    Yokoo, H
    Yuhara, Y
    Maruyama, K
    Sasaki, A
    Hirato, J
    Nakazato, Y
    BRAIN & DEVELOPMENT, 2002, 24 (02): : 91 - 94
  • [7] Ornithine transcarbamylase deficiency: A case report
    Martland, T
    Mbamali, AC
    Rittey, C
    Tanner, S
    Bonham, JR
    Griffiths, PD
    NEUROPEDIATRICS, 1998, 29 (06) : 331 - 332
  • [8] THERAPY OF HYPERAMMONEMIA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN A MALE NEONATE
    SNYDERMAN, SE
    SANSARICQ, C
    PHANSALKAR, SV
    SCHACHT, RG
    NORTON, PM
    PEDIATRICS, 1975, 56 (01) : 65 - 73
  • [9] ORNITHINE TRANSCARBAMYLASE DEFICIENCY - NEW MUTATION
    STOLL, C
    BIETH, R
    DREYFUS, J
    FLORI, E
    LUTZ, P
    LEVY, JM
    ARCHIVES FRANCAISES DE PEDIATRIE, 1978, 35 (05): : 512 - 518
  • [10] COMPLETE ORNITHINE TRANSCARBAMYLASE DEFICIENCY - CAUSE OF LETHAL NEONATAL HYPERAMMONEMIA
    CAMPBELL, AG
    ROSENBER.LE
    SNODGRAS.PJ
    NUZUM, CT
    PEDIATRIC RESEARCH, 1971, 5 (08) : 394 - &