Order Article Reprints

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, et al. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of Clinical Medicine. 2019; 8(11):2020. https://doi.org/10.3390/jcm8112020

Rius, Rocio, Nicole J. Van Bergen, Alison G. Compton, Lisa G. Riley, Maina P. Kava, Shanti Balasubramaniam, David J. Amor, Miriam Fanjul-Fernandez, Mark J. Cowley, Michael C. Fahey, and et al. 2019. "Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants" Journal of Clinical Medicine 8, no. 11: 2020. https://doi.org/10.3390/jcm8112020

Rius, R., Van Bergen, N. J., Compton, A. G., Riley, L. G., Kava, M. P., Balasubramaniam, S., Amor, D. J., Fanjul-Fernandez, M., Cowley, M. J., Fahey, M. C., Koenig, M. K., Enns, G. M., Sadedin, S., Wilson, M. J., Tan, T. Y., Thorburn, D. R., & Christodoulou, J. (2019). Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of Clinical Medicine, 8(11), 2020. https://doi.org/10.3390/jcm8112020