Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

被引：29
作者：
Jansen, GA
Mihalik, SJ
Watkins, PA
Moser, HW
Jakobs, C
Heijmans, HSA
Wanders, RJA
机构：
[1] UNIV AMSTERDAM,ACAD MED CTR,DEPT CLIN BIOCHEM,NL-1105 AZ AMSTERDAM,NETHERLANDS
[2] UNIV AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,NL-1105 AZ AMSTERDAM,NETHERLANDS
[3] JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER RES INST,DEPT PEDIAT,BALTIMORE,MD 21218
[4] JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER RES INST,DEPT NEUROL,BALTIMORE,MD 21218
[5] FREE UNIV AMSTERDAM HOSP,DEPT CLIN CHEM,METAB UNIT,AMSTERDAM,NETHERLANDS
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 03期
关键词：
D O I：
10.1023/A:1005379406639
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：444 / 446
页数：3
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