Citations

Johnstone, D.L., Al-Shekaili, H.H., Tarailo-Graovac, M., Wolf, N.I., Ivy, A.S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C.W.T., Kernohan, K.D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R.A., Koul, R., Al Futaisi, A., Haaxma, C.A., Olson, H., Sigurdardottir, L.Y., Arnold, G.L., Gerkes, E.H., Boon, M., Heiner-Fokkema, M.R., Noble, S., Bosma, M., Jans, J., Koolen, D.A., Kamsteeg, E.J., Drögemöller, B., Ross, C.J., Majewski, J., Cho, M.T., Begtrup, A., Wasserman, W.W., Bui, T., Brimble, E., Violante, S., Houten, S.M., Wevers, R.A., van Faassen, M., Kema, I.P., Lepage, N., Care4Rare Canada Consortium, Lines, M.A., Dyment, D.A., Wanders, R.J.A., Verhoeven-Duif, N., Ekker, M., Boycott, K.M., Friedman, J.M., Pena, I.A., van Karnebeek, C.D.M. (2019) PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain : a journal of neurology. 142(3):542-559

Johnstone, D.L., Al-Shekaili, H.H., Tarailo-Graovac, M., Wolf, N.I., Ivy, A.S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C.W.T., Kernohan, K.D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R.A., Koul, R., Al Futaisi, A., Haaxma, C.A., Olson, H., Sigurdardottir, L.Y., Arnold, G.L., Gerkes, E.H., Boon, M., Heiner-Fokkema, M.R., Noble, S., Bosma, M., Jans, J., Koolen, D.A., Kamsteeg, E.J., Drögemöller, B., Ross, C.J., Majewski, J., Cho, M.T., Begtrup, A., Wasserman, W.W., Bui, T., Brimble, E., Violante, S., Houten, S.M., Wevers, R.A., van Faassen, M., Kema, I.P., Lepage, N., Care4Rare Canada Consortium, Lines, M.A., Dyment, D.A., Wanders, R.J.A., Verhoeven-Duif, N., Ekker, M., Boycott, K.M., Friedman, J.M., Pena, I.A., van Karnebeek, C.D.M. (2019) PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain : a journal of neurology. 142(3):542-559