Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency first presenting with hypoglycemia and strokes.

被引:0
|
作者
Jayakar, P
Martinez, D
Roe, CR
Rarback, S
Lazar, S
机构
[1] Miami Childrens Hosp, Miami, FL USA
[2] Miami Childrens Hosp, Dept Neurol, Miami, FL USA
[3] Baylor Coll Med, Dept Genet, Houston, TX 77030 USA
[4] Univ Miami, Dept Pediat & Nutr, Miami, FL USA
[5] JD Childrens Hosp, Div Pediat Critical Care, Hollywood, FL USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
1543
引用
收藏
页码:281 / 281
页数:1
相关论文
共 50 条
  • [31] Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families
    Li, Lulu
    Tang, Yue
    Zhao, Jinqi
    Gong, Lifei
    Yang, Nan
    Wang, Shunan
    Yang, Haihe
    Kong, Yuanyuan
    FRONTIERS IN GENETICS, 2024, 15
  • [32] Anesthetic Management of Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD): A Case Report
    Peixoto, Claudia
    Marques, Ana
    Sousa, Maria
    Morais, Ines
    Rodrigues, Joao
    Dourado, Claudia
    ANESTHESIA AND ANALGESIA, 2021, 133 (3S_SUPPL): : 1258 - 1258
  • [33] A PRIMIGRAVIDA WITH VERY-LONG-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
    Murata, Ken-ya
    Sugie, Hideo
    Nishino, Ichizo
    Kondo, Tomoyoshi
    Ito, Hidefumi
    MUSCLE & NERVE, 2014, 49 (02) : 295 - 296
  • [34] PURIFICATION OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND CHARACTERIZATION OF ITS DEFICIENCY IN 7 PATIENTS
    AOYAMA, T
    SOURI, M
    USHIKUBO, S
    KAMIJO, T
    YAMAGUCHI, S
    KELLEY, RI
    RHEAD, WJ
    UETAKE, K
    TANAKA, K
    HASHIMOTO, T
    JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (06): : 2465 - 2473
  • [35] Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency
    Roe, CR
    Wiltse, HE
    Sweetman, L
    Alvarado, LL
    JOURNAL OF PEDIATRICS, 2000, 136 (03): : 397 - 399
  • [36] Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report
    Hess, Aaron S.
    Rice, Gregory M.
    Jochman, John D.
    Muldowney, Bridget L.
    PEDIATRIC ANESTHESIA, 2018, 28 (03) : 296 - 297
  • [37] Diagnosis and treatment of very-long-chain Acyl CoA dehydrogenase deficiency.
    Damore, MB
    Roe, CR
    Goldberg, T
    Nada, MA
    VlaneySaban, C
    Slonim, AE
    PEDIATRIC RESEARCH, 1996, 39 (04) : 846 - 846
  • [38] First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
    Liang, CuiLi
    Jiang, MinYan
    Sheng, HuiYing
    Cai, YanNa
    Wu, DongYan
    Yin, Xi
    Peng, MinZhi
    Liu, Li
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2015, 28 (5-6): : 681 - 684
  • [39] CLONING OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND MOLECULAR CHARACTERIZATION OF ITS DEFICIENCY IN 2 PATIENTS
    AOYAMA, T
    SOURI, M
    UENO, I
    KAMIJO, T
    YAMAGUCHI, S
    RHEAD, WJ
    TANAKA, K
    HASHIMOTO, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (02) : 273 - 283
  • [40] Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: Evolution after prenatal diagnosis and prompt management
    Sluysmans, T
    Tuerlinckx, D
    Hubinont, C
    VerellenDumoulin, C
    Brivet, M
    VianeySaban, C
    JOURNAL OF PEDIATRICS, 1997, 131 (03): : 444 - 446