Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids are the results. We report hyperleucinosis durin...

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發表在:Mol Genet Metab Rep
Main Authors: Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet
格式: Artigo
語言:Inglês
出版: Elsevier 2021
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Research Paper
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8102797/
https://ncbi.nlm.nih.gov/pubmed/33996492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100763
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