2 FORMS OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY

被引：56
|
作者：
SWEETMAN, L
机构：
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1981年 / 4卷 / 02期
关键词：
D O I：
10.1007/BF02263587
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：53 / 54
页数：2
相关论文
共 50 条
  • [21] ABNORMAL FATTY-ACID COMPOSITION OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY FIBROBLASTS
    PACKMAN, S
    WHITNEY, SC
    FITCH, M
    FLEMING, SE
    JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (01) : 47 - 57
  • [22] BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY (MCD) - DEFICIENT BIOTINIDASE ACTIVITY ASSOCIATED WITH RENAL LOSS OF BIOTIN
    BAUMGARTNER, ER
    SUORMALA, T
    WICK, H
    BONJOUR, JP
    JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 : 123 - 125
  • [23] BIOTIN RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
    SWEETMAN, L
    PACKMAN, S
    YOSHINO, M
    COWAN, M
    WARA, D
    AMMANN, A
    NYHAN, W
    PEDIATRIC RESEARCH, 1979, 13 (04) : 426 - 426
  • [24] BIOTIN RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
    THOENE, J
    SWEETMAN, L
    YOSHINO, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A64 - A64
  • [25] INTERMITTENT ATAXIA AND IMMUNODEFICIENCY WITH MULTIPLE CARBOXYLASE DEFICIENCIES - A BIOTIN-RESPONSIVE DISORDER
    SANDER, JE
    MALAMUD, N
    COWAN, MJ
    PACKMAN, S
    AMMAN, AJ
    WARA, DW
    ANNALS OF NEUROLOGY, 1980, 8 (05) : 544 - 547
  • [26] CLINICAL AND BIOCHEMICAL FINDINGS ON A CHILD WITH MULTIPLE BIOTIN-RESPONSIVE CARBOXYLASE DEFICIENCIES
    NARISAWA, K
    ARAI, N
    IGARASHI, Y
    SATOH, T
    TADA, K
    HIROOKA, Y
    JOURNAL OF INHERITED METABOLIC DISEASE, 1982, 5 (02) : 67 - 68
  • [27] MUTANT HOLOCARBOXYLASE SYNTHETASE - EVIDENCE FOR THE ENZYME DEFECT IN EARLY INFANTILE BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
    BURRI, BJ
    SWEETMAN, L
    NYHAN, WL
    JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (06): : 1491 - 1495
  • [28] PRENATAL ADMINISTRATION OF BIOTIN IN BIOTIN RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
    ROTH, KS
    YANG, W
    ALLAN, L
    SAUNDERS, M
    GRAVEL, RA
    DAKSHINAMURTI, K
    PEDIATRIC RESEARCH, 1982, 16 (02) : 126 - 129
  • [29] LACTIC-ACIDOSIS IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY CAUSED BY HOLOCARBOXYLASE SYNTHETASE DEFICIENCY OF EARLY AND LATE ONSET
    SHERWOOD, WG
    SAUNDERS, M
    ROBINSON, BH
    BREWSTER, T
    GRAVEL, RA
    JOURNAL OF PEDIATRICS, 1982, 101 (04): : 546 - 550
  • [30] PROPIONYL-COA CARBOXYLASE DEFICIENCY IN A PATIENT WITH BIOTIN-RESPONSIVE 3-METHYLCROTONYLGLYCINURIA
    SWEETMAN, L
    BATES, SP
    HULL, D
    NYHAN, WL
    PEDIATRIC RESEARCH, 1977, 11 (11) : 1144 - 1147
12345