Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echoc...

by de Boer, L., de Vries, M.C, Denis, S., Derks, T.G.J, Ferdinandusse, S., Fuchs, S.A, Garrelfs, M.R, Geurtzen, R., Houtkooper, R.H, Huigen, M.C.D.G, Kluijtmans, L.A.J, Schwantje, M., Udink ten Cate, F.E.A, van Karnebeek, C.D.M, van Wegberg, A.M.J, Veenvliet, A.R.J, Wanders, R.J.A
Published 2022

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas...

by Akhondian, J., Aldhalaan, H., Aldowsari, L., AlHargan, A., Alkuraya, F.S, AlMass, R., Al-Muhaizea, M.A, Alqudairy, H., AlRasheed, M.M, Alsagob, M., Alsaif, H.S, Alshwameen, M.O, Alwadei, A.H, Alyousef, A., Ashrafzadeh, F., Barakat, T.S, Bibi, F., Bierau, J., Ceylan, A.C, Ciara, E., Colak, D., Dameron, A., Efthymiou, S., Elbendary, H.M, Farid, A., Ferla, M.P, Firdous, A., García Cazorla, M.Á, Genomics, Q.S, Glamuzina, E., Gleeson, J.G, Haack, T.B, Haider, S., Hashem, M., Houlden, H., Imannezhad, S., Issa, M.Y, Iwanicka-Pronicka, K., Jayakar, A., Jayakar, P., Kaiyrzhanov, R., Karimiani, E.G, Kaya, N., Khan, S., Koneev, K., Lines, M.A, Maqbool, S., Maroofian, R., Mirzadeh, H.S, Morava, E., Piekutowska-Abramczuk, D., Pistorio, A., Poduri, A., Prokisch, H., Ribes, A., Santiago-Sim, T., Scala, M., Schmitt-Mechelke, T., Shashkin, C., Sheidley, B., Skrypnyk, C., Stellingwerff, M.D, Striano, P., Taylor, J.C, Toosi, M.B, Tort, F., Upadia, J., van der Knaap, M.S, van Karnebeek, C.D, Walano, N., Wortmann, S.B, Yang, H., Yildiz, Y., Zaki, M.S, Ziegler, A.
Published 2022