PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY

被引：161
|
作者：
WATKINS, PA
CHEN, WW
HARRIS, CJ
HOEFLER, G
HOEFLER, S
BLAKE, DC
BALFE, A
KELLEY, RI
MOSER, AB
BEARD, ME
MOSER, HW
机构：
[1] JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROL,BALTIMORE,MD 21205
[2] COLUMBIA UNIV,DEPT BIOL SCI,NEW YORK,NY 10027
[3] COOK CTY HOSP,CHICAGO,IL 60612
来源：
JOURNAL OF CLINICAL INVESTIGATION | 1989年 / 83卷 / 03期
关键词：
D O I：
10.1172/JCI113956
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：771 / 777
页数：7
相关论文
共 50 条
  • [1] Peroxisomal bifunctional enzyme deficiency with associated retinal findings
    AlHazzaa, SAF
    Ozand, PT
    [J]. OPHTHALMIC GENETICS, 1997, 18 (02): : 93 - 99
  • [2] PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - BIOCHEMICAL AND CLINICAL FINDINGS
    MCGUINNESS, MC
    THEDA, C
    MOSER, AB
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 101 - 101
  • [3] Peroxisomal bifunctional enzyme deficiency: an atypical presentation.
    Raymond, GV
    Soto, EG
    Theda, C
    Moser, AB
    Moser, HW
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A260 - A260
  • [4] PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - BIOCHEMICAL AND CLINICAL FINDINGS
    THEDA, C
    MCGUINNESS, MC
    MOSER, HW
    [J]. PEDIATRIC RESEARCH, 1991, 29 (04) : A364 - A364
  • [5] Urinary bile acids and peroxisomal bifunctional enzyme deficiency
    Natowicz, MR
    Evans, JE
    Kelley, RI
    Moser, AB
    Watkins, PA
    Moser, HW
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (02): : 356 - 362
  • [6] PEROXISOMAL BIFUNCTIONAL ENZYME COMPLEX DEFICIENCY WITH ASSOCIATED RETINAL FINDINGS
    EUSTIS, HS
    CURRY, T
    SUPERNEAU, DW
    [J]. JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 1995, 32 (02) : 125 - 127
  • [7] Peroxisomal bifunctional enzyme deficiency: Serial neurophysiological examinations of a case
    Akaboshi, S
    Tomita, Y
    Suzuki, Y
    Une, M
    Sohma, O
    Takashima, S
    Takeshita, K
    [J]. BRAIN & DEVELOPMENT, 1997, 19 (04): : 295 - 299
  • [8] Abnormalities in polyunsaturated fatty acids in peroxisomal bifunctional enzyme deficiency.
    Soto, EG
    Theda, C
    Moser, AB
    Moser, HW
    Raymond, GV
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A251 - A251
  • [9] PEROXISOMAL ACYL-COA OXIDASE AND BIFUNCTIONAL ENZYME DEFICIENCY WITH DETECTABLE ENZYME PROTEIN
    SUZUKI, Y
    SHIMOZAWA, N
    WANDERS, RJA
    MOSER, HW
    ORII, T
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 953 - 953
  • [10] BIOCHEMICAL AND CLINICAL DISTINCTION BETWEEN PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY AND ACYL-COA OXIDASE DEFICIENCY
    WATKINS, PA
    MCGUINNESS, MC
    RAYMOND, GV
    RASMUSSEN, M
    MOSER, AB
    MOSER, HW
    [J]. ANNALS OF NEUROLOGY, 1994, 36 (03) : 492 - 492
12345