Search Results - johan+van+hove

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Diagnostic Markers for Pyridoxine Dependent Epilepsy

Pyridoxine dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. Approximately, 75% of those diagnosed suffer from intellectual disability and developmental delay. Although effective treatments exist, therapeutics must be administered quickly and current diagnosis procedures are...

Published: 8/29/2022 | Inventor(s): Curtis Coughlin II, Michael Wempe, Johan Van Hove

Disease Areas Neurology

Category(s): Diagnostics

Improved Treatment for Homocystinuria

A research group led by Dr. Kenneth MacLean at the University of Colorado has shown that a combination of formate treatment with betaine could dramatically improve clinical outcome in Homocystinuria (HCU), a rare metabolic condition characterized by an excess of homocysteine in the urine. This new treatment removes the need for a methionine restricted...

Published: 3/24/2023 | Inventor(s): Kenneth MacLean, Johan Van Hove, Hua Jiang

Disease Areas

Category(s): Therapeutics