Vertaling van "déficit en holocarboxylase synthétase " (Frans → Engels) :

déficit en holocarboxylase synthétase
Early-onset multiple carboxylase deficiency

déficit en carbamoyl-phosphate synthétase 1
A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a pre