2 FORMS OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY

被引:56
|
作者
SWEETMAN, L
机构
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
  • [41] BIOTIN RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY IN A CHILD WITH CONGENITAL LACTIC-ACIDOSIS
    PACKMAN, S
    SWEETMAN, L
    WALL, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A58 - A58
  • [42] BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION
    CHARLES, BM
    HOSKING, G
    GREEN, A
    POLLITT, R
    BARTLETT, K
    TAITZ, LS
    LANCET, 1979, 2 (8134): : 118 - 120
  • [43] BIOTIN-RESPONSIVE LACTIC-ACIDOSIS
    VELAZQUEZ, A
    MORET, E
    PRIETO, EC
    CARNEVALE, A
    DELCASTILLO, V
    AMERICAN JOURNAL OF HUMAN GENETICS, 1980, 32 (06) : A57 - A57
  • [44] DEFECTIVE BIOTIN ABSORPTION IN MULTIPLE CARBOXYLASE DEFICIENCY
    MUNNICH, A
    SAUDUBRAY, JM
    CARRE, G
    COUDE, FX
    OGIER, H
    CHARPENTIER, C
    FREZAL, J
    LANCET, 1981, 2 (8240): : 263 - 263
  • [45] BIOTIN-RESPONSIVE BETA-METHYLCROTONYLGLYCINURIA
    GOMPERTZ, D
    DRAFFAN, GH
    WATTS, JL
    HULL, D
    LANCET, 1971, 2 (7714): : 22 - &
  • [46] ENZYME STUDIES IN BIOTIN-RESPONSIVE DISORDERS
    BARTLETT, K
    GHNEIM, HK
    STIRK, HJ
    WASTELL, H
    JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 : 46 - 52
  • [47] BIOTIN-RESPONSIVE DEPRESSION DURING HYPERALIMENTATION
    LEVENSON, JL
    JOURNAL OF PARENTERAL AND ENTERAL NUTRITION, 1983, 7 (02) : 181 - 183
  • [48] A case series of patients presenting with biotin responsive multiple carboxylase deficiency: A single center study
    Masood, M.
    Majid, H.
    Khan, A. H.
    Jamil, A.
    Jafri, L.
    CLINICA CHIMICA ACTA, 2022, 530 : S216 - S216
  • [49] Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder
    Pindolia, Kirit
    Jordan, Megan
    Guo, Caiying
    Matthews, Nell
    Mock, Donald M.
    Strovel, Erin
    Blitzer, Miriam
    Wolf, Barry
    MOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : 161 - 169
  • [50] Revisiting the administration of biotin to children with biotin-responsive disorders Comment
    Wolf, Barry
    MOLECULAR GENETICS AND METABOLISM, 2022, 137 (1-2) : 225 - 227