Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

被引:29
作者
Huizing, M
Wendel, U
Ruitenbeek, W
Iacobazzi, V
Ijlst, L
Veenhuizen, P
Savelkoul, P
van den Heuvel, LP
Smeitink, JAM
Wanders, RJA
Trijbels, JMF
Palmieri, F
机构
[1] Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands
[2] Univ Hosp, Dept Pediat, Dusseldorf, Germany
[3] Univ Bari, Dept Pharmacobiol, Bari, Italy
[4] Univ Amsterdam, Dept Clin Chem, Amsterdam, Netherlands
[5] Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands
关键词
D O I
10.1023/A:1005324323401
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:262 / 267
页数:6
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