The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the most frequent organic aciduria detected in tandem mass spectrometry–based neonatal screening programs. The phenotype is variable, ranging from n...

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Hlavní autoři: Baumgartner, Matthias R., Almashanu, Shlomo, Suormala, Terttu, Obie, Cassandra, Cole, Robert N., Packman, Seymour, Baumgartner, E. Regula, Valle, David
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC199271/
https://ncbi.nlm.nih.gov/pubmed/11181649
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