PRENATAL-DIAGNOSIS OF THE CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME BY DETECTION OF AN IMPAIRED PLASMALOGEN BIOSYNTHESIS

被引：10

作者：

SCHUTGENS, RBH ^{[1
]}

HEYMANS, HSA ^{[1
]}

WANDERS, RJA ^{[1
]}

VANDENBOSCH, H ^{[1
]}

SCHRAKAMP, G ^{[1
]}

机构：

[1] STATE UNIV UTRECHT,BIOCHEM LAB,UTRECHT,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1985年 / 8卷

关键词：

D O I：

10.1007/BF01811505

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：153 / 154

页数：2

共 8 条

[1]

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[6] THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - INCREASED LEVELS AND IMPAIRED DEGRADATION OF VERY-LONG-CHAIN FATTY-ACIDS AND THEIR USE IN PRENATAL-DIAGNOSIS [J].

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[7] THE CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME - IMPAIRED DENOVO BIOSYNTHESIS OF PLASMALOGENS IN CULTURED SKIN FIBROBLASTS [J].

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[8] DEFICIENCY OF ACYL-COA-DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE IN PATIENTS WITH ZELLWEGER (CEREBRO-HEPATO-RENAL) SYNDROME [J].

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