Retinal degeneration in an adult with long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency

被引：0
|
作者：
Park, SS
Keltner, JL
机构：
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2005年 / 46卷
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
541
引用
收藏
页数：1
相关论文
共 50 条
  • [1] Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency
    Cox, Keith B.
    Liu, Jian
    Tian, Liqun
    Barnes, Stephen
    Yang, Qinglin
    Wood, Philip A.
    LABORATORY INVESTIGATION, 2009, 89 (12) : 1348 - 1354
  • [2] IN VIVO MEASUREMENT OF FATTY ACID OXIDATION IN CHILDREN WITH LONG-CHAIN 3-HYDROXY ACYL-COA DEHYDROGENASE DEFICIENCY (LCHADD)
    Gillingham, M. B.
    Harding, C. O.
    Kitterman, R.
    Hoppel, C.
    Schoeller, D. A.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 54 - 54
  • [3] Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
    Cox, KB
    Hamm, DA
    Millington, DS
    Matern, D
    Vockley, J
    Rinaldo, P
    Pinkert, CA
    Rhead, WJ
    Lindsey, JR
    Wood, PA
    HUMAN MOLECULAR GENETICS, 2001, 10 (19) : 2069 - 2077
  • [4] The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
    Sharma, Shashwat
    Mckenzie, Matthew
    BIOMOLECULES, 2025, 15 (03)
  • [5] Long Chain 3-Hydroxy Acyl-CoA Dehydrogenase (LCHAD) Deficiency: novel phenotype and genotype abnormalities.
    Dasouki, MJ
    Roe, CR
    Ibdah, JA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 278 - 278
  • [6] LONG-CHAIN 3-OH ACYL-COA DEHYDROGENASE-DEFICIENCY
    HALE, DE
    THORPE, C
    BRATT, K
    WRIGHT, JH
    COATES, PM
    GLASCOW, AM
    PEDIATRIC RESEARCH, 1989, 25 (04) : A199 - A199
  • [7] IDENTIFICATION OF VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN 3 PATIENTS PREVIOUSLY DIAGNOSED WITH LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    YAMAGUCHI, S
    INDO, Y
    COATES, PM
    HASHIMOTO, T
    TANAKA, K
    PEDIATRIC RESEARCH, 1993, 34 (01) : 111 - 113
  • [8] Defects in long-chain 3-hydroxy acyl-CoA dehydrogenase lead to hepatocellular carcinoma: A novel etiology of hepatocellular carcinoma
    Khare, Tripti
    Khare, Sharad
    Angdisen, Jerry J.
    Zhang, Qiong
    Stuckel, Alexei
    Mooney, Brian P.
    Ridenhour, Suzanne E.
    Gitan, Raad S.
    Hammoud, Ghassan M.
    Ibdah, Jamal A.
    INTERNATIONAL JOURNAL OF CANCER, 2020, 147 (05) : 1461 - 1473
  • [9] The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
    Andresen, BS
    VianeySaban, C
    Bross, P
    Divry, P
    Roe, CR
    Nada, MA
    Knudsen, I
    Gregersen, N
    JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (02) : 169 - 172
  • [10] DIAGNOSING VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (VLCADD)
    Olpin, S. E.
    Clark, S.
    Scott, C.
    Croft, J.
    Manning, N. J.
    Bonham, J. R.
    Hind, H.
    Andresen, B. S.
    Khan, A.
    Sharma, R.
    Kirk, R.
    Dalley, J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S15 - S15
12345