Evening of the Section of Inherited Metabolic Disorders, SSKB
Chair doc.MUDr.V.Bzdúch,CSc.
Programme · 3 lectures
- Cerebrotendinous xanthomatosis in children
- Empagliflozin in the treatment of glycogenosis Ib.
- Glutaric aciduria type II detected by newborn screening 4.Bzdúch V.: The first patient with a new congenital disorder of glycosylation SLC37A4-CDG.