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REASSESSMENT OF BIOTIN-RESPONSIVENESS IN UNRESPONSIVE PROPIONYL COA CARBOXYLASE DEFICIENCY
被引:7
作者
:
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
VIRGINIA COMMONWEALTH UNIV, DEPT PEDIAT, RICHMOND, VA 23298 USA
VIRGINIA COMMONWEALTH UNIV, DEPT PEDIAT, RICHMOND, VA 23298 USA
WOLF, B
[
1
]
机构
:
[1]
VIRGINIA COMMONWEALTH UNIV, DEPT PEDIAT, RICHMOND, VA 23298 USA
来源
:
JOURNAL OF PEDIATRICS
|
1980年
/ 97卷
/ 06期
关键词
:
D O I
:
10.1016/S0022-3476(80)80437-9
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
引用
收藏
页码:964 / 966
页数:3
相关论文
共 10 条
[1]
COMBINED DEFECT OF 3 MITOCHONDRIAL CARBOXYLASES PRESENTING AS BIOTIN-RESPONSIVE 3-METHYLCROTONYL GLYCINURIA AND 3-HYDROXYISOVALERIC ACIDURIA
BARTLETT, K
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
BARTLETT, K
NG, H
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
NG, H
LEONARD, JV
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
LEONARD, JV
[J].
CLINICA CHIMICA ACTA,
1980,
100
(02)
: 183
-
186
[2]
GRAVEL RA, 1977, AM J HUM GENET, V29, P378
[3]
GYORGY P, 1954, VITAMINS, P351
[4]
PROPIONIC ACIDEMIA - DIAGNOSIS BY ENZYME ASSAY IN FROZEN LEUKOCYTES
HSIA, YE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
HSIA, YE
SCULLY, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
SCULLY, KJ
[J].
JOURNAL OF PEDIATRICS,
1973,
83
(04)
: 625
-
628
[5]
BIOTIN-RESPONSE ORGANIC-ACIDURIA - MULTIPLE CARBOXYLASE DEFECTS AND COMPLEMENTATION STUDIES WITH PROPIONICACIDEMIA IN CULTURED FIBROBLASTS
SAUNDERS, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
SAUNDERS, M
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
SWEETMAN, L
ROBINSON, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
ROBINSON, B
ROTH, K
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
ROTH, K
COHN, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
COHN, R
GRAVEL, RA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
GRAVEL, RA
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1979,
64
(06)
: 1695
-
1702
[6]
STIMULATION OF PROPIONYL COA AND BETA-METHYLCROTONYL COA CARBOXYLASE ACTIVITIES IN HUMAN-LEUKOCYTES AND CULTURED FIBROBLASTS BY BIOTIN
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
WOLF, B
ROSENBERG, LE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
ROSENBERG, LE
[J].
PEDIATRIC RESEARCH,
1979,
13
(11)
: 1275
-
1279
[7]
HETEROZYGOTE EXPRESSION IN PROPIONYL COENZYME A CARBOXYLASE DEFICIENCY - DIFFERENCES BETWEEN MAJOR COMPLEMENTATION GROUPS
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
WOLF, B
ROSENBERG, LE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
ROSENBERG, LE
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1978,
62
(05)
: 931
-
936
[8]
WOLF B, 1978, LANCET, V2, P901
[9]
EVALUATION OF BIOTIN RESPONSIVENESS IN CULTURED FIBROBLASTS FROM PATIENTS WITH PROPIONIC ACIDEMIA - ABSENCE OF RESPONSE BY STRUCTURALLY ALTERED CARBOXYLASES
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
MED COLL VIRGINIA,DEPT PEDIAT,RICHMOND,VA 23298
MED COLL VIRGINIA,DEPT PEDIAT,RICHMOND,VA 23298
WOLF, B
[J].
BIOCHEMICAL GENETICS,
1979,
17
(7-8)
: 709
-
713
[10]
WOLF B, 1978, AM J HUM GENET, V30, P455
←
1
→
共 10 条
[1]
COMBINED DEFECT OF 3 MITOCHONDRIAL CARBOXYLASES PRESENTING AS BIOTIN-RESPONSIVE 3-METHYLCROTONYL GLYCINURIA AND 3-HYDROXYISOVALERIC ACIDURIA
BARTLETT, K
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
BARTLETT, K
NG, H
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
NG, H
LEONARD, JV
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
LEONARD, JV
[J].
CLINICA CHIMICA ACTA,
1980,
100
(02)
: 183
-
186
[2]
GRAVEL RA, 1977, AM J HUM GENET, V29, P378
[3]
GYORGY P, 1954, VITAMINS, P351
[4]
PROPIONIC ACIDEMIA - DIAGNOSIS BY ENZYME ASSAY IN FROZEN LEUKOCYTES
HSIA, YE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
HSIA, YE
SCULLY, KJ
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA
SCULLY, KJ
[J].
JOURNAL OF PEDIATRICS,
1973,
83
(04)
: 625
-
628
[5]
BIOTIN-RESPONSE ORGANIC-ACIDURIA - MULTIPLE CARBOXYLASE DEFECTS AND COMPLEMENTATION STUDIES WITH PROPIONICACIDEMIA IN CULTURED FIBROBLASTS
SAUNDERS, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
SAUNDERS, M
SWEETMAN, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
SWEETMAN, L
ROBINSON, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
ROBINSON, B
ROTH, K
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
ROTH, K
COHN, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
COHN, R
GRAVEL, RA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TORONTO, HOSP SICK CHILDREN, RES INST, TORONTO M5G 1X8, ONTARIO, CANADA
GRAVEL, RA
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1979,
64
(06)
: 1695
-
1702
[6]
STIMULATION OF PROPIONYL COA AND BETA-METHYLCROTONYL COA CARBOXYLASE ACTIVITIES IN HUMAN-LEUKOCYTES AND CULTURED FIBROBLASTS BY BIOTIN
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
WOLF, B
ROSENBERG, LE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
ROSENBERG, LE
[J].
PEDIATRIC RESEARCH,
1979,
13
(11)
: 1275
-
1279
[7]
HETEROZYGOTE EXPRESSION IN PROPIONYL COENZYME A CARBOXYLASE DEFICIENCY - DIFFERENCES BETWEEN MAJOR COMPLEMENTATION GROUPS
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
WOLF, B
ROSENBERG, LE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
ROSENBERG, LE
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1978,
62
(05)
: 931
-
936
[8]
WOLF B, 1978, LANCET, V2, P901
[9]
EVALUATION OF BIOTIN RESPONSIVENESS IN CULTURED FIBROBLASTS FROM PATIENTS WITH PROPIONIC ACIDEMIA - ABSENCE OF RESPONSE BY STRUCTURALLY ALTERED CARBOXYLASES
WOLF, B
论文数:
0
引用数:
0
h-index:
0
机构:
MED COLL VIRGINIA,DEPT PEDIAT,RICHMOND,VA 23298
MED COLL VIRGINIA,DEPT PEDIAT,RICHMOND,VA 23298
WOLF, B
[J].
BIOCHEMICAL GENETICS,
1979,
17
(7-8)
: 709
-
713
[10]
WOLF B, 1978, AM J HUM GENET, V30, P455
←
1
→