Treatment of patients with Fabry disease with agalsidase alfa and agalsidase beta: phenotypic diversity necessitates the development of individualized (website)
2013
A novel technology to improve Enzyme Replacement Therapy for Mucopolysaccharidosis I and Fabry disease (website)
Gene-corrected stem cells for curative treatment of SCID (website)
Preventing arrhythmias and sudden cardiac death in long QT syndrome type 3 through pharmacological late sodium current inhibition (website)
Thyroid hormone analog therapy of patients with severe psychomotor retardation caused by mutations in the MCT8 thyroid hormone transporter: The Triac Trial (website)
Treating the cognitive deficits associated with NF1 using the HCN channel agonist lamotrigine (website)
2012
Antisense therapy for several major rare diseases (website)
Towards treatment of MELAS syndrome: drug development based on newly identified compounds (website)
