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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders
Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare inborn errors of metabolism and the more common multifactorial diseases. Although deficiency of the branched-chain ketoacid dehydrogenase (BCKDC) and associated elevations in the BCAAs and their keto...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4170715/ https://ncbi.nlm.nih.gov/pubmed/24651065 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu123 |
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