LETHAL ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN A FEMALE NEONATE

被引：13
|
作者：
GIRGIS, N
MCGRAVEY, V
SHAH, BL
HERRIN, J
SHIH, VE
机构：
[1] MASSACHUSETTS GEN HOSP,BOSTON,MA 02114
[2] BAYSTATE MED CTR,SPRINGFIELD,MA 01107
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1987年 / 10卷 / 03期
关键词：
D O I：
10.1007/BF01800079
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：274 / 275
页数：2
相关论文
共 50 条
  • [21] 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
  • [22] Ornithine transcarbamylase deficiency in pregnancy
    Cordero, DR
    Baker, J
    Dorinzi, D
    Toffle, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (02) : 237 - 240
  • [23] Ornithine transcarbamylase deficiency and pancreatitis
    Anadiotis, G
    Ierardi-Curto, L
    Kaplan, PB
    Berry, GT
    JOURNAL OF PEDIATRICS, 2001, 138 (01): : 123 - 124
  • [24] Partial ornithine transcarbamylase deficiency
    Riudor, E
    Arranz, JA
    Rodés, M
    PEDIATRICS, 2003, 111 (05) : 1123 - 1124
  • [25] THE DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    BATSHAW, ML
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1985, 4 (01): : 4 - 6
  • [26] 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
  • [27] A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency
    Iijima, Hiroyuki
    Kubota, Mitsuru
    MOLECULAR GENETICS AND METABOLISM, 2022, 137 (03) : 301 - 307
  • [28] Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency
    Jun Kido
    Tatsuya Kawasaki
    Hiroshi Mitsubuchi
    Hidenobu Kamohara
    Takashi Ohba
    Shirou Matsumoto
    Fumio Endo
    Kimitoshi Nakamura
    World Journal of Hepatology, 2017, 9 (06) : 343 - 348
  • [29] Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency
    Feigenbaum, Annette
    Lamale-Smith, Leah
    Weinstein, Lawrence
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 33
  • [30] STUDY OF A FEMALE PATIENT WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY - DETECTION OF A NONSENSE MUTATION
    HATA, A
    MATSUURA, T
    SETOYAMA, C
    SHIMADA, K
    TAKEDA, E
    KURODA, Y
    AKABOSHI, I
    MATSUDA, I
    JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (03) : 347 - 350
12345