GLUTARIC ACIDEMIA TYPE IN UTAH

被引：0
|
作者：
Vanzo, R. [1 ]
Ernst, S. L. [1 ]
Botto, L. D. [1 ]
Pasquali, M. [1 ]
Longo, N. [1 ]
机构：
[1] Univ Utah, Salt Lake City, UT USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2009年 / 98卷 / 1-2期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
541
引用
收藏
页码：104 / 104
页数：1
相关论文
共 50 条
  • [21] ANTENATAL DIAGNOSIS OF GLUTARIC ACIDEMIA
    GOODMAN, SI
    GALLEGOS, DA
    PULLIN, CJ
    HALPERN, B
    TRUSCOTT, RJW
    WISE, G
    WILCKEN, B
    RYAN, ED
    WHELEN, DT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1980, 32 (05) : 695 - 699
  • [22] On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1
    Lund, TM
    Christensen, E
    Kristensen, AS
    Schousboe, A
    Lund, AM
    JOURNAL OF NEUROSCIENCE RESEARCH, 2004, 77 (01) : 143 - 147
  • [23] Glutaric acidemia type 1: Clinical and biochemical profile in Tunisian infants
    Esseghir, N.
    Tebib, N.
    Menif, O.
    Sanhaji, H.
    Elasmi, M.
    Feki, M.
    Ben Dridi, M. F.
    Mebazaa, A.
    Kaabachi, N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 37 - 37
  • [24] Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort
    Funk, CBR
    Prasad, AN
    Frosk, P
    Sauer, S
    Kölker, S
    Greenberg, CR
    Del Bigio, MR
    BRAIN, 2005, 128 : 711 - 722
  • [25] MUTATIONS IN ETF AND ETF DEHYDROGENASE IN GLUTARIC ACIDEMIA TYPE-II
    GOODMAN, SI
    BAUMBACH, L
    FRERMAN, FE
    PEDIATRIC RESEARCH, 1991, 29 (04) : A129 - A129
  • [26] Fetal dysorganogenesis of metabolic origin:: Glutaric acidemia type 2.
    Camp, RL
    Raymond, K
    Rinaldo, P
    Sinard, JH
    Hui, P
    Mahoney, MJ
    Reyes-Múgica, M
    LABORATORY INVESTIGATION, 1999, 79 (01) : 1P - 1P
  • [27] A CASE OF GLUTARIC ACIDEMIA TYPE-I - EFFECT OF RIBOFLAVIN AND CARNITINE
    LIPKIN, PH
    ROE, CR
    GOODMAN, SI
    BATSHAW, ML
    JOURNAL OF PEDIATRICS, 1988, 112 (01): : 62 - 65
  • [28] DEEP SEQUENCING OF GCDH IN KNOWN GLUTARIC ACIDEMIA TYPE 1 PATIENTS
    Venturoni, Leah
    Woontner, Michael
    Goodman, Stephen I.
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) : 274 - 274
  • [29] Glutaric acidemia type I. Report of a case and literature review
    Forero Sanchez, Edwin
    Echeverri Pena, Olga Yaneth
    Espinosa Garcia, Eugenia
    Guevara Morales, Johana Maria
    Barrera Avellaneda, Luis Alejandro
    IATREIA, 2015, 28 (02) : 193 - 197
  • [30] Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening
    Matsumoto, Masaaki
    Awano, Hiroyuki
    Bo, Ryosuke
    Nagai, Masashi
    Tomioka, Kazumi
    Nishiyama, Masahiro
    Ninchouji, Takeshi
    Nagase, Hiroaki
    Yagi, Mariko
    Morioka, Ichiro
    Hasegawa, Yuki
    Takeshima, Yasuhiro
    Iijima, Kazumoto
    PEDIATRICS INTERNATIONAL, 2018, 60 (01) : 67 - 69
12345