Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis

被引:5
作者
Carpenter, KH
Wilcken, B
Christodoulou, J
Thorburn, DR
机构
[1] New Childrens Hosp, NSW Biochem Genet Serv, Parramatta, NSW 2124, Australia
[2] New Childrens Hosp, Western Sydney Genet Program, Parramatta, NSW 2124, Australia
[3] Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW, Australia
[4] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia
关键词
D O I
10.1023/A:1026721021233
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:845 / 846
页数:2
相关论文
共 1 条
[1]   Five patients with a biotin-responsive defect in holocarboxylase formation: Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro [J].
Suormala, T ;
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Burtscher, A ;
Fuchshuber, A ;
Tratzmuller, R ;
Lenze, MJ ;
Raab, K ;
Baur, B ;
Wick, H ;
Baumgartner, R .
PEDIATRIC RESEARCH, 1997, 41 (05) :666-673