Priestman, David A

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Simpson, M. A., Cross, H., Proukakis, C., Priestman, D. A., Neville, D. C. A., Reinkensmeier, G., Wang, H., Wiznitzer, M., Gurtz, K., Verganelaki, A., et al. (2004) · Nature Genetics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

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Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

Kirkegaard, T., Gray, J., Priestman, D. A., Wallom, K.-L., Atkins, J., Olsen, O. D., Klein, A., Drndarski, S., Petersen, N. H. T., Ingemann, L., et al. (2016) · Science Translational Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

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