Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations
European Journal of Pediatrics, 05/17/2012
Pichler H et al. – These observation underlines that despite its rarity, Thiamine–responsive megaloblastic anemia (TRMA) must be considered as an important differential diagnosis in native central European patients with suggestive signs and symptoms. An early molecular genetic verification of the diagnosis provides a sound basis for a successful and simple treatment that helps to prevent severe sequelae.