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
  • [31] Late onset ornithine transcarbamylase deficiency: A case report
    Fessatou, S
    Garoufi, A
    Tsapra, H
    Maropoulos, G
    Michelakakis, H
    Schulpis, K
    PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE, 2003, 22 (02): : 153 - 157
  • [32] Ornithine transcarbamylase deficiency in adult
    Brajon, D.
    Carassou, P.
    Pruna, L.
    Feillet, F.
    Kaminsky, P.
    REVUE DE MEDECINE INTERNE, 2010, 31 (10): : 709 - 711
  • [33] ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN A GIRL- CASE REPORT
    Mikhaylova, S., V
    Mathina, I. A.
    Baydakova, G., V
    Zakharova, E. Y.
    Bologov, A. A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S121 - S121
  • [34] Patients with ornithine transcarbamylase deficiency
    Schmidt, J
    Schroth, M
    Irouschek, A
    Birkholz, T
    Kurzai, M
    Kröber, S
    Meisner, M
    Albrecht, S
    ANAESTHESIST, 2005, 54 (12): : 1201 - 1208
  • [35] Neuropathology of ornithine transcarbamylase deficiency
    Raghavan, R.
    Noronha, Y.
    Zuopan, C.
    HISTOPATHOLOGY, 2008, 53 : 320 - 320
  • [36] HYPERTRANSAMINASEMIA AND ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    ZAMMARCHI, E
    DONATI, MA
    FILIPPI, L
    MORRONE, A
    REPETTO, T
    MASCOLO, G
    COMELLINI, L
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1995, 21 (01): : 82 - 87
  • [37] Ornithine transcarbamylase deficiency in pregnancy
    Cordero, DR
    Baker, J
    Dorinzi, D
    Toffle, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (02) : 237 - 240
  • [38] Origin of new mutations in ornithine transcarbamylase (OTC) deficiency
    Cranston, T
    Logan, P
    Genet, S
    JOURNAL OF MEDICAL GENETICS, 2000, 37 : S81 - S81
  • [39] Ornithine transcarbamylase deficiency and pancreatitis
    Anadiotis, G
    Ierardi-Curto, L
    Kaplan, PB
    Berry, GT
    JOURNAL OF PEDIATRICS, 2001, 138 (01): : 123 - 124
  • [40] Partial ornithine transcarbamylase deficiency
    Riudor, E
    Arranz, JA
    Rodés, M
    PEDIATRICS, 2003, 111 (05) : 1123 - 1124