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Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

We studied two patients with 3-methylglutaconic aciduria in order to determine the molecular defect. A new assay for 3-methylglutaconyl-coenzyme A (CoA) hydratase has been developed in which the substrate, [5-14C]3-methylglutaconyl-CoA, was synthesized using 3-methylcrotonyl-CoA carboxylase purified...

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Bibliografski detalji
Glavni autori: Narisawa, K, Gibson, K M, Sweetman, L, Nyhan, W L, Duran, M, Wadman, S K
Format: Artigo
Jezik:Inglês
Izdano: 1986
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC424450/
https://ncbi.nlm.nih.gov/pubmed/3082934
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