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Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

We measured the synthesis of 5'-deoxyadenosylcobalamin (AdoCbl) in fibroblast extracts from patients with inherited methylmalonicacidemia due to deficient activity of the cobalamin-dependent holoenzyme, methylmalonyl-CoA mutase (EC 5.4.99.2). Previous studies with intact fibroblasts from patien...

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Detalles Bibliográficos
Main Authors: Mahoney, M J, Hart, A C, Steen, V D, Rosenberg, L E
Formato: Artigo
Idioma:Inglês
Publicado: 1975
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC432859/
https://ncbi.nlm.nih.gov/pubmed/1058495
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