Stephanie Grűnewald

发表

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology.

Rishi Sharma, P. Gissen, S. Santra, 2022, medRxiv.

The incidence of movement disorders increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

J. Clayden, T. Kalber, S. Santra, 2023, bioRxiv.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

P. Tanpaiboon, A. Skouma, M. Brouwers, 2024, Frontiers in Genetics.

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

A. Broomfield, S. Santra, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.