HETEROGENEITY IN DI/TRIHYDROXYCHOLESTANOIC ACIDEMIA

被引：6

作者：

TENBRINK, HJ

WANDERS, RJA

CHRISTENSEN, E

BRANDT, NJ

JAKOBS, C

机构：

[1] UNIV AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,1105 AZ AMSTERDAM,NETHERLANDS

[2] UNIV COPENHAGEN,DEPT PEDIAT,CLIN GENET SECT,COPENHAGEN,DENMARK

来源：

ANNALS OF CLINICAL BIOCHEMISTRY | 1994年 / 31卷

关键词：

THCA-COA OXIDASE; PRISTANOYL-COA OXIDASE; PEROXISOMAL DISORDERS;

D O I：

10.1177/000456329403100217

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：195 / 197

页数：3

共 7 条

[1] A NEW PEROXISOMAL DISORDER - DIHYDROXYCHOLESTANAEMIA AND TRIHYDROXYCHOLESTANAEMIA DUE TO A PRESUMED TRIHYDROXYCHOLESTANOYL-COA OXIDASE DEFICIENCY [J].

CHRISTENSEN, E ;

VANELDERE, J ;

BRANDT, NJ ;

SCHUTGENS, RBH ;

WANDERS, RJA ;

EYSSEN, HJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) :363-366

[2] DIHYDROXYCHOLESTANOIC AND TRIHYDROXYCHOLESTANOIC ACIDEMIA WITH HEPATIC-FAILURE [J].

PRZYREMBEL, H ;

WANDERS, RJA ;

VANROERMUND, CWT ;

SCHUTGENS, RBH ;

MANNAERTS, GP ;

CASTEELS, M .

JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) :367-370

[3]

SCHEPERS L, 1990, J BIOL CHEM, V265, P5242

[4]

SINGH H, 1992, J LIPID RES, V33, P1597

[5]

TENBRINK HJ, 1992, J LIPID RES, V33, P41

[6]

TENBRINK HJ, 1992, J LIPID RES, V33, P1449

[7]

VANHOVE GF, 1993, J BIOL CHEM, V268, P10335

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