Maple Syrup Urine Disease (MSUD)
1 articolo — 2016-2016
RI
Pediatria flash
Malattia delle urine a sciroppo d’acero e screening neonatale metabolico allargato
2016/8 — pag. 524-525
Argomenti correlati
Neonatal Screening (123)
Metabolism, Inborn Errors (31)
Newborn screening (27)
Inborn errors of metabolism (12)
encephalopathy (10)
encefalopatia (10)
Errori congeniti del metabolismo (7)
Metabolic encephalopathy (2)
Maple Syrup Urine Disease (2)
Encefalopatia metabolica neonatale (2)
Aminoacidi a catena ramificata (1)
leucina, isoleucina e valina (Branched chain amino acids - BCAA) (1)
Brain Diseases, Metabolic (1)
Valine (1)
expanded newborn metabolic screening (1)
Malattia delle urine a sciroppo d'acero (1)
Amino Acids, Branched-Chain (1)
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) (1)
screening neonatale metabolico allargato (1)
branched-chain alpha-ketoacid dehydrogenase complex (BCKDC) (1)
