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Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
被引:9
作者
:
Burlina, AB
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Padua, Dept Pediat, I-35128 Padua, Italy
Burlina, AB
Gibson, KM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Padua, Dept Pediat, I-35128 Padua, Italy
Gibson, KM
Ruitenbeek, W
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Padua, Dept Pediat, I-35128 Padua, Italy
Ruitenbeek, W
Bonafè, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Padua, Dept Pediat, I-35128 Padua, Italy
Bonafè, L
Bennett, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Padua, Dept Pediat, I-35128 Padua, Italy
Bennett, MJ
机构
:
[1]
Univ Padua, Dept Pediat, I-35128 Padua, Italy
[2]
Oregon Hlth Sci Univ, Biochem Genet Lab, Portland, OR 97201 USA
[3]
Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands
[4]
Univ Texas, SW Med Ctr, Dept Pediat, Dallas, TX USA
来源
:
JOURNAL OF INHERITED METABOLIC DISEASE
|
1998年
/ 21卷
/ 08期
关键词
:
D O I
:
10.1023/A:1005426920116
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
[No abstract available]
引用
收藏
页码:864 / 866
页数:3
相关论文
共 4 条
[1]
SECONDARY INHIBITION OF MULTIPLE NAD-REQUIRING DEHYDROGENASES IN RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY - POSSIBLE METABOLIC MARKERS FOR THE PRIMARY DEFECT
BENNETT, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
BENNETT, MJ
SHERWOOD, WG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
SHERWOOD, WG
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
GIBSON, KM
BURLINA, AB
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
BURLINA, AB
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1993,
16
(03)
: 560
-
562
[2]
Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency
Gibson, KM
论文数:
0
引用数:
0
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UNIV TEXAS,SW MED CTR,DEPT NEUROL,DALLAS,TX 75235
Gibson, KM
Feigenbaum, ASJ
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UNIV TEXAS,SW MED CTR,DEPT NEUROL,DALLAS,TX 75235
Feigenbaum, ASJ
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1997,
20
(05)
: 712
-
713
[3]
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency
Riudor, E
论文数:
0
引用数:
0
h-index:
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机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Riudor, E
Ribes, A
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Ribes, A
PerezCerda, C
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机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
PerezCerda, C
Arranz, JA
论文数:
0
引用数:
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h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Arranz, JA
Mora, J
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引用数:
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INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Mora, J
Yeste, D
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INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Yeste, D
Castello, F
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INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Castello, F
Christensen, B
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INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Christensen, B
Sovik, O
论文数:
0
引用数:
0
h-index:
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机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Sovik, O
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1995,
18
(06)
: 748
-
749
[4]
Sweetman L., 1995, METABOLIC MOL BASES, V7th, P1387
←
1
→
共 4 条
[1]
SECONDARY INHIBITION OF MULTIPLE NAD-REQUIRING DEHYDROGENASES IN RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY - POSSIBLE METABOLIC MARKERS FOR THE PRIMARY DEFECT
BENNETT, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
BENNETT, MJ
SHERWOOD, WG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
SHERWOOD, WG
GIBSON, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
GIBSON, KM
BURLINA, AB
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
BURLINA, AB
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1993,
16
(03)
: 560
-
562
[2]
Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency
Gibson, KM
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,SW MED CTR,DEPT NEUROL,DALLAS,TX 75235
Gibson, KM
Feigenbaum, ASJ
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV TEXAS,SW MED CTR,DEPT NEUROL,DALLAS,TX 75235
Feigenbaum, ASJ
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1997,
20
(05)
: 712
-
713
[3]
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency
Riudor, E
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Riudor, E
Ribes, A
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Ribes, A
PerezCerda, C
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
PerezCerda, C
Arranz, JA
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Arranz, JA
Mora, J
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Mora, J
Yeste, D
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Yeste, D
Castello, F
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Castello, F
Christensen, B
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Christensen, B
Sovik, O
论文数:
0
引用数:
0
h-index:
0
机构:
INST BIOQUIM CLIN,CERDANYOLA,SPAIN
Sovik, O
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1995,
18
(06)
: 748
-
749
[4]
Sweetman L., 1995, METABOLIC MOL BASES, V7th, P1387
←
1
→