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Details on Person 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism
| Class:Id | LiteratureReference:70813 |
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| _displayName | 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism |
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| _timestamp | 2003-10-30 07:40:03 |
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| author | [Person:70791] Gibson, KM
[Person:70814] Burlingame, TG
[Person:70815] Hogema, B
[Person:70816] Jakobs, Cornelis
[Person:70817] Schutgens, RB
[Person:70818] Millington, D
[Person:70820] Roe, DS
[Person:70787] Sweetman, L
[Person:70821] Steiner, RD
[Person:70822] Linck, L
[Person:70823] Pohowalla, P
[Person:70824] Sacks, M
[Person:70825] Kiss, D
[Person:70826] Rinaldo, P
[Person:70737] Vockley, J |
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| journal | Pediatr Res |
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| modified | [InstanceEdit:538689] D'Eustachio, P, 2010-03-08 |
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| pages | 830-3 |
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| pubMedIdentifier | 10832746 |
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| title | 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. |
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| volume | 47 |
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| year | 2000 |
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| (literatureReference) | [Reaction:70800] alpha-methylbutyryl-CoA + FAD => tiglyl-CoA + FADH2 [Homo sapiens]
[Pathway:9914355] Isovaleric acidemia [Homo sapiens]
[CatalystActivityReference:9643583] acyl-CoA dehydrogenase activity of ACADSB tetramer [mitochondrial matrix] Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism |
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