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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2021
Aiheet:
Research Paper
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia