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MEVALONATE KINASE-DEFICIENCY IN A CHILD WITH CEREBELLAR-ATAXIA, HYPOTONIA AND MEVALONICACIDURIA
被引:24
作者
:
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
GIBSON, KM
HOFFMANN, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
HOFFMANN, G
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
NYHAN, WL
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
SWEETMAN, L
BERGER, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
BERGER, R
LECOULTRE, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
LECOULTRE, R
SMIT, GPA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093
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
BERGER, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
BERGER, R
SMIT, GPA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
SMIT, GPA
SCHIERBEEK, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
SCHIERBEEK, H
BIJSTERVELD, K
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
BIJSTERVELD, K
LECOULTRE, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
LECOULTRE, R
[J].
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
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
GIBSON, KM
HOFFMANN, G
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
HOFFMANN, G
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
NYHAN, WL
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
SWEETMAN, L
BRANDT, IK
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
BRANDT, IK
WAPPNER, RS
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
WAPPNER, RS
BADER, PI
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
BADER, PI
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1987,
10
: 282
-
285
[4]
MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHESIS
HOFFMAN, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
HOFFMAN, G
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
GIBSON, KM
BRANDT, IK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
BRANDT, IK
BADER, PI
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
BADER, PI
WAPPNER, RS
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
WAPPNER, RS
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
SWEETMAN, L
[J].
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
WEYLER, W
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
WEYLER, W
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
SWEETMAN, L
MAGGIO, DC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
MAGGIO, DC
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
NYHAN, WL
[J].
CLINICA CHIMICA ACTA,
1977,
76
(03)
: 321
-
328
←
1
→
共 6 条
[1]
MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL-BIOSYNTHESIS
BERGER, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
BERGER, R
SMIT, GPA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
SMIT, GPA
SCHIERBEEK, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
SCHIERBEEK, H
BIJSTERVELD, K
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
BIJSTERVELD, K
LECOULTRE, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
UNIV GRONINGEN,SCH MED,DEPT NEUROL,9712 KZ GRONINGEN,NETHERLANDS
LECOULTRE, R
[J].
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
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
GIBSON, KM
HOFFMANN, G
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
HOFFMANN, G
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
NYHAN, WL
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
SWEETMAN, L
BRANDT, IK
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
BRANDT, IK
WAPPNER, RS
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
WAPPNER, RS
BADER, PI
论文数:
0
引用数:
0
h-index:
0
机构:
JAMES WHITCOMB RILEY HOSP CHILDREN,DEPT PEDIAT,INDIANAPOLIS,IN 46202
BADER, PI
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1987,
10
: 282
-
285
[4]
MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHESIS
HOFFMAN, G
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
HOFFMAN, G
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
GIBSON, KM
BRANDT, IK
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
BRANDT, IK
BADER, PI
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
BADER, PI
WAPPNER, RS
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
WAPPNER, RS
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO,DEPT PEDIAT M009B,LA JOLLA,CA 92093
SWEETMAN, L
[J].
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
WEYLER, W
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
WEYLER, W
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
SWEETMAN, L
MAGGIO, DC
论文数:
0
引用数:
0
h-index:
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机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
MAGGIO, DC
NYHAN, WL
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
UNIV CALIF SAN DIEGO, DEPT PEDIAT, LA JOLLA, CA 92093 USA
NYHAN, WL
[J].
CLINICA CHIMICA ACTA,
1977,
76
(03)
: 321
-
328
←
1
→