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Details on Person Clinical and biochemical characterization of four patients with mutations in ECHS1
| Class:Id | LiteratureReference:9916629 |
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| _displayName | Clinical and biochemical characterization of four patients with mutations in ECHS1 |
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| _timestamp | 2024-07-25 19:35:38 |
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| author | [Person:193458] Ferdinandusse, Sacha
[Person:9916611] Friederich, Marisa W
[Person:3318632] Burlina, Alberto
[Person:70779] Ruiter, Jos P N
[Person:9916576] Coughlin, Curtis R
[Person:5688864] Dishop, Megan K
[Person:3000083] Gallagher, Renata C
[Person:9907672] Bedoyan, Jirair K
[Person:71100] Vaz, FM
[Person:9033820] Waterham, Hans R
[Person:9916587] Gowan, Katherine
[Person:9916614] Chatfield, Kathryn
[Person:9916616] Bloom, Kaitlyn
[Person:77512] Bennett, MJ
[Person:380184] Elpeleg, O
[Person:9916593] Van Hove, Johan L K
[Person:9859048] Wanders, Ronald J A |
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| created | [InstanceEdit:9916623] Rothfels, Karen, 2024-07-25 |
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| journal | Orphanet J Rare Dis |
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| pages | 79 |
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| pubMedIdentifier | 26081110 |
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| title | Clinical and biochemical characterization of four patients with mutations in ECHS1 |
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| volume | 10 |
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| year | 2015 |
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| (literatureReference) | [FailedReaction:9916717] ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA [Homo sapiens]
[Pathway:9916720] Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 [Homo sapiens] |
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