Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected via newborn screen in the state of California

被引:0
|
作者
Gallant, Natalie M. [1 ,2 ]
Leydiker, Karen [3 ]
Tang, Hao [4 ]
Feuchtbaum, Lisa [4 ]
Lorey, Fred [4 ]
Dorrani, Naghmeh [1 ,2 ]
Chang, Erica [1 ,2 ]
Puckett, Rebecca [3 ]
Barshop, Bruce A. [5 ]
Cederbaum, Stephen D. [1 ,2 ]
Abdenur, Jose E. [3 ]
Wang, Raymond Y. [3 ]
机构
[1] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90024 USA
[2] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90024 USA
[3] CHOC Childrens, Pediat Subspecialty Fac, Div Metab Disorders, Orange, CA USA
[4] Calif Dept Hlth Serv, Genet Dis Branch, Richmond, CA USA
[5] Univ Calif San Diego, Dept Pediat, Rady Childrens Hosp San Diego, La Jolla, CA 92093 USA
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
引用
收藏
页码:247 / 247
页数:1
相关论文
共 50 条
  • [41] MOLECULAR ASPECTS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    MATSUBARA, Y
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 53 - 53
  • [42] Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
    Corydon, MJ
    Vockley, J
    Rinaldo, P
    Rhead, WJ
    Kjeldsen, M
    Winter, V
    Riggs, C
    Babovic-Vuksanovic, D
    Smeitink, J
    De Jong, J
    Levy, H
    Sewell, AC
    Roe, C
    Matern, D
    Dasouki, M
    Gregersen, N
    PEDIATRIC RESEARCH, 2001, 49 (01) : 18 - 23
  • [43] Role of common gene variations in the molecular pathogenesis of short-chain Acyl-CoA dehydrogenase deficiency
    Corydon M.J.
    Vockley J.
    Rinaldo P.
    Rhead W.J.
    Kjeldsen M.
    Winter V.
    Riggs C.
    Babovic-Vuksanovic D.
    Smeitink J.
    De Jong J.
    Levy H.
    Sewell A.C.
    Roe C.
    Matern D.
    Dasouki M.
    Gregersen N.
    Pediatric Research, 2001, 49 (1) : 18 - 23
  • [44] Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency
    Custers, JWH
    Poll-The, BT
    Duran, M
    de Klerk, JBC
    Uiterwaal, CSPM
    Helders, PJM
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (02) : 200 - 201
  • [45] Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
    Miller, Marcus J.
    Burrage, Lindsay C.
    Gibson, James B.
    Strenk, Meghan E.
    Lose, Edward J.
    Bick, David P.
    Elsea, Sarah H.
    Sutton, V. Reid
    Sun, Qin
    Graham, Brett H.
    Craigen, William J.
    Zhang, Victor Wei
    Wong, Lee-Jun C.
    MOLECULAR GENETICS AND METABOLISM, 2015, 116 (03) : 139 - 145
  • [46] Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
    Ribes, A
    Riudor, E
    Garavaglia, B
    Martinez, G
    Arranz, A
    Invernizzi, F
    Briones, P
    Lamantea, E
    Sentís, M
    Barceló, A
    Roig, M
    EUROPEAN JOURNAL OF PEDIATRICS, 1998, 157 (04) : 317 - 320
  • [47] Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
    A. Ribes
    E. Riudor
    B. Garavaglia
    G. Martinez
    A. Arranz
    F. Invernizzi
    P. Briones
    E. Lamantea
    M. Sentís
    A. Barceló
    M. Roig
    European Journal of Pediatrics, 1998, 157 : 317 - 320
  • [48] Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency
    Fatma Derya Bulut
    Deniz Kör
    Berna Şeker-Yılmaz
    Gülen Gül-Mert
    Sebile Kılavuz
    Neslihan Önenli-Mungan
    Metabolic Brain Disease, 2018, 33 : 977 - 979
  • [49] Short-chain acyl-CoA dehydrogenase deficiency - A cause of ophthalmoplegia and multicore myopathy
    Tein, I
    Haslam, RHA
    Rhead, WJ
    Bennett, MJ
    Becker, LE
    Vockley, J
    NEUROLOGY, 1999, 52 (02) : 366 - 372
  • [50] Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
    Waisbren, S. E.
    Levy, H. L.
    Noble, M.
    Matern, D.
    Gregersen, N.
    Pasley, K.
    Marsden, D.
    MOLECULAR GENETICS AND METABOLISM, 2008, 95 (1-2) : 39 - 45