MEVALONATE KINASE-DEFICIENCY IN A CHILD WITH CEREBELLAR-ATAXIA, HYPOTONIA AND MEVALONICACIDURIA

被引：24
作者：
GIBSON, KM
HOFFMANN, G
NYHAN, WL
SWEETMAN, L
BERGER, R
LECOULTRE, R
SMIT, GPA
机构：
[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
[2] STATE UNIV GRONINGEN,DEPT PEDIAT,9700 AB GRONINGEN,NETHERLANDS
[3] STATE UNIV GRONINGEN,DEPT NEUROL,9700 AB GRONINGEN,NETHERLANDS
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 1988年 / 148卷 / 03期
关键词：
D O I：
10.1007/BF00441413
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：250 / 252
页数：3
相关论文
共 6 条
[1]   MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL-BIOSYNTHESIS [J].
BERGER, R ;
SMIT, GPA ;
SCHIERBEEK, H ;
BIJSTERVELD, K ;
LECOULTRE, R .
CLINICA CHIMICA ACTA, 1985, 152 (1-2) :219-222
[2]  
BOYUM A, 1968, SCAND J CLIN LAB INV, VS 21, P77
[3]   MEVALONIC ACIDURIA - FAMILY STUDIES IN MEVALONATE KINASE-DEFICIENCY, AN INBORN ERROR OF CHOLESTEROL-BIOSYNTHESIS [J].
GIBSON, KM ;
HOFFMANN, G ;
NYHAN, WL ;
SWEETMAN, L ;
BRANDT, IK ;
WAPPNER, RS ;
BADER, PI .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :282-285
[4]   MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHESIS [J].
HOFFMAN, G ;
GIBSON, KM ;
BRANDT, IK ;
BADER, PI ;
WAPPNER, RS ;
SWEETMAN, L .
NEW ENGLAND JOURNAL OF MEDICINE, 1986, 314 (25) :1610-1614
[5]  
SLY WS, 1976, TISSUE ANTIGENS, V7, P165
[6]   DEFICIENCY OF PROPIONYL-COA CARBOXYLASE AND METHYLCROTONYL-COA CARBOXYLASE IN A PATIENT WITH METHYLCROTONYLGLYCINURIA [J].
WEYLER, W ;
SWEETMAN, L ;
MAGGIO, DC ;
NYHAN, WL .
CLINICA CHIMICA ACTA, 1977, 76 (03) :321-328
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