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
  • [31] The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency
    Chongsrisawat, Voranush
    Damrongphol, Ponghatai
    Ittiwut, Chupong
    Ittiwut, Rungnapa
    Suphapeetiporn, Kanya
    Shotelersuk, Vorasuk
    GENE, 2018, 679 : 377 - 381
  • [32] CARNITINE DEFICIENCY ASSOCIATED WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    MAYATEPEK, E
    KURCZYNSKI, TW
    HOPPEL, CL
    GUNNING, WT
    PEDIATRIC NEUROLOGY, 1991, 7 (03) : 196 - 199
  • [33] Ornithine transcarbamylase deficiency diagnosed in pregnancy
    Celik, Ozlem
    Buyuktas, Deram
    Aydin, Ahmet
    Acbay, Ozer
    GYNECOLOGICAL ENDOCRINOLOGY, 2011, 27 (12) : 1052 - 1054
  • [34] IMMUNOCHEMICAL ANALYSES IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    MCREYNOLDS, JW
    ROSENBERG, LE
    PEDIATRIC RESEARCH, 1977, 11 (04) : 460 - 460
  • [35] Gene therapy for ornithine transcarbamylase deficiency
    Kiwaki, K
    Matsuda, I
    ACTA PAEDIATRICA JAPONICA, 1996, 38 (02): : 189 - 192
  • [36] mRNA THERAPY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    Sablad, Marciano
    Bao, Yanjie
    Vega, Jerel
    Bhaskaran, Hari
    Perez-Garcia, Carlos
    Gonzalez, Jose
    Dam, Thanhchau
    Limphong, Patty
    Davis, Jared
    Karmali, Priya
    Parker, Suezanne
    Chivukula, Pad
    MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 298 - 298
  • [37] The molecular basis of ornithine transcarbamylase deficiency
    Tuchman, M
    McCullough, BA
    Yudkoff, M
    EUROPEAN JOURNAL OF PEDIATRICS, 2000, 159 (Suppl 3) : S196 - S198
  • [38] HYPERAMMONAEMIA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    HOPKINS, IJ
    CONNELLY, JF
    DAWSON, AG
    HIRD, FJR
    MADDISON, TG
    ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) : 143 - &
  • [39] Ornithine transcarbamylase deficiency: A diagnostic odyssey
    Knerr, Ina
    Cassiman, David
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (04) : 661 - 662
  • [40] Anesthetic implications of ornithine transcarbamylase deficiency
    Dutoit, Andrea P.
    Flick, Randall R.
    Sprung, Juraj
    Babovic-Vuksanovic, Dusica
    Weingarten, Toby N.
    PEDIATRIC ANESTHESIA, 2010, 20 (07) : 666 - 673
12345