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The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
被引:34
作者
:
Andresen, BS
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
Andresen, BS
VianeySaban, C
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
VianeySaban, C
论文数:
引用数:
h-index:
机构:
Bross, P
Divry, P
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
Divry, P
Roe, CR
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
Roe, CR
Nada, MA
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
Nada, MA
Knudsen, I
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
Knudsen, I
Gregersen, N
论文数:
0
引用数:
0
h-index:
0
机构:
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
Gregersen, N
机构
:
[1]
AARHUS UNIV HOSP,CTR MED MOL BIOL,DK-8000 AARHUS,DENMARK
[2]
SKEJBY SYGEHUS,FAC HLTH SCI,DK-8200 AARHUS,DENMARK
[3]
HOP DEBROUSSE,UNITE ETUD MALAD METAB,LYON,FRANCE
[4]
BAYLOR UNIV,MED CTR,INST METAB DIS,DALLAS,TX
来源
:
JOURNAL OF INHERITED METABOLIC DISEASE
|
1996年
/ 19卷
/ 02期
关键词
:
D O I
:
10.1007/BF01799421
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:169 / 172
页数:4
相关论文
共 7 条
[1]
PURIFICATION OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND CHARACTERIZATION OF ITS DEFICIENCY IN 7 PATIENTS
AOYAMA, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
AOYAMA, T
SOURI, M
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
SOURI, M
USHIKUBO, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
USHIKUBO, S
KAMIJO, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
KAMIJO, T
YAMAGUCHI, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
YAMAGUCHI, S
KELLEY, RI
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
KELLEY, RI
RHEAD, WJ
论文数:
0
引用数:
0
h-index:
0
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SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
RHEAD, WJ
UETAKE, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
UETAKE, K
TANAKA, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
TANAKA, K
HASHIMOTO, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
HASHIMOTO, T
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1995,
95
(06)
: 2465
-
2473
[2]
A NOVEL DISEASE WITH DEFICIENCY OF MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE
AOYAMA, T
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
AOYAMA, T
UCHIDA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
UCHIDA, Y
KELLEY, RI
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
KELLEY, RI
MARBLE, M
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
MARBLE, M
HOFMAN, K
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
HOFMAN, K
TONSGARD, JH
论文数:
0
引用数:
0
h-index:
0
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GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
TONSGARD, JH
RHEAD, WJ
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0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
RHEAD, WJ
HASHIMOTO, T
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
HASHIMOTO, T
[J].
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
1993,
191
(03)
: 1369
-
1372
[3]
Beinert H., 1963, ENZYMES, P447
[4]
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF A NEW INBORN ERROR OF MITOCHONDRIAL FATTY-ACID OXIDATION IN FIBROBLASTS
BERTRAND, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
BERTRAND, C
LARGILLIERE, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
LARGILLIERE, C
ZABOT, MT
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
ZABOT, MT
MATHIEU, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
MATHIEU, M
VIANEYSABAN, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
VIANEYSABAN, C
[J].
BIOCHIMICA ET BIOPHYSICA ACTA,
1993,
1180
(03)
: 327
-
329
[5]
GREGERSEN N, 1991, HUM GENET, V86, P545
[6]
CRYSTAL-STRUCTURES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE FROM PIG-LIVER MITOCHONDRIA WITH AND WITHOUT SUBSTRATE
KIM, JJP
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Biochemistry, Medical College of Wisconsin, Milwaukee
KIM, JJP
WANG, M
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Biochemistry, Medical College of Wisconsin, Milwaukee
WANG, M
PASCHKE, R
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Biochemistry, Medical College of Wisconsin, Milwaukee
PASCHKE, R
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1993,
90
(16)
: 7523
-
7527
[7]
TREEM WR, 1991, PEDIATRICS, V87, P328
←
1
→
共 7 条
[1]
PURIFICATION OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND CHARACTERIZATION OF ITS DEFICIENCY IN 7 PATIENTS
AOYAMA, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
AOYAMA, T
SOURI, M
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
SOURI, M
USHIKUBO, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
USHIKUBO, S
KAMIJO, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
KAMIJO, T
YAMAGUCHI, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
YAMAGUCHI, S
KELLEY, RI
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
KELLEY, RI
RHEAD, WJ
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
RHEAD, WJ
UETAKE, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
UETAKE, K
TANAKA, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
TANAKA, K
HASHIMOTO, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV, SCH MED, DEPT PEDIAT, MATSUMOTO, NAGANO 390, JAPAN
HASHIMOTO, T
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1995,
95
(06)
: 2465
-
2473
[2]
A NOVEL DISEASE WITH DEFICIENCY OF MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE
AOYAMA, T
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
AOYAMA, T
UCHIDA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
UCHIDA, Y
KELLEY, RI
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
KELLEY, RI
MARBLE, M
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
MARBLE, M
HOFMAN, K
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
HOFMAN, K
TONSGARD, JH
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
TONSGARD, JH
RHEAD, WJ
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
RHEAD, WJ
HASHIMOTO, T
论文数:
0
引用数:
0
h-index:
0
机构:
GIFU UNIV, SCH MED, DEPT PEDIAT, GIFU 500, JAPAN
HASHIMOTO, T
[J].
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
1993,
191
(03)
: 1369
-
1372
[3]
Beinert H., 1963, ENZYMES, P447
[4]
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF A NEW INBORN ERROR OF MITOCHONDRIAL FATTY-ACID OXIDATION IN FIBROBLASTS
BERTRAND, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
BERTRAND, C
LARGILLIERE, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
LARGILLIERE, C
ZABOT, MT
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
ZABOT, MT
MATHIEU, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
MATHIEU, M
VIANEYSABAN, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE
VIANEYSABAN, C
[J].
BIOCHIMICA ET BIOPHYSICA ACTA,
1993,
1180
(03)
: 327
-
329
[5]
GREGERSEN N, 1991, HUM GENET, V86, P545
[6]
CRYSTAL-STRUCTURES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE FROM PIG-LIVER MITOCHONDRIA WITH AND WITHOUT SUBSTRATE
KIM, JJP
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Biochemistry, Medical College of Wisconsin, Milwaukee
KIM, JJP
WANG, M
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Biochemistry, Medical College of Wisconsin, Milwaukee
WANG, M
PASCHKE, R
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Biochemistry, Medical College of Wisconsin, Milwaukee
PASCHKE, R
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1993,
90
(16)
: 7523
-
7527
[7]
TREEM WR, 1991, PEDIATRICS, V87, P328
←
1
→