PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - BIOCHEMICAL AND CLINICAL FINDINGS

被引：0
|
作者：
THEDA, C
MCGUINNESS, MC
MOSER, HW
机构：
[1] UNIV MARYLAND,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21201
[2] UNIV MARYLAND,SCH MED,KENNEDY INST,BALTIMORE,MD 21201
来源：
PEDIATRIC RESEARCH | 1991年 / 29卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：A364 / A364
页数：1
相关论文
共 50 条
  • [1] 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
  • [2] Peroxisomal bifunctional enzyme deficiency with associated retinal findings
    AlHazzaa, SAF
    Ozand, PT
    [J]. OPHTHALMIC GENETICS, 1997, 18 (02): : 93 - 99
  • [3] 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
  • [4] PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
    WATKINS, PA
    CHEN, WW
    HARRIS, CJ
    HOEFLER, G
    HOEFLER, S
    BLAKE, DC
    BALFE, A
    KELLEY, RI
    MOSER, AB
    BEARD, ME
    MOSER, HW
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (03): : 771 - 777
  • [5] 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
  • [6] 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
  • [7] 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
  • [8] 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
  • [9] 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
  • [10] 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
12345