QR kód

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...

Celý popis

Uloženo v:
Hlavní autoři: Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2021-06-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Maple syrup urine disease
Liver transplantation
Hyperleucinosis
Branched chain amino acids
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2214426921000574
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky