Johnstone, D., Al-Shekaili, H., Tarailo-Graovac, M., Wolf, N., Ivy, A., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C., Kernohan, K., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R., Koul, R., Al Futaisi, A., Haaxma, C.,...Olson, H. (2019) PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. BRAIN , 142(None), 542-559.