The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration von Anjema, K., Venema, G., Hofstede, F.C., Carbasius Weber, E.C., Bosch, A.M., Ter Horst, N.M., Hollak, C.E.M., Jonkers, C.F., Rubio–Gozalbo, M.E., van der Ploeg, E.M.C., de Vries, M.C., Janssen-Regelink, R.G., Janssen, M.C.H., Zweers-van Essen, H., Boelen, C.C.A., van der Herberg-van de Wetering, N.A.P., Heiner-Fokkema, M.R., van Rijn, M., van Spronsen, F.J.

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IDH2 mutations in patients with D-2-hydroxyglutaric aciduria von Kranendijk, M, Struys, E.A, van Schaftingen, E, Gibson, K.M, Kanhai, W.A, van der Knaap, M.S, Amiel, J, Buist, N.R, Das, A.M, de Klerk, J.B, Feigenbaum, A.S, Grange, D.K, Hofstede, F.C, Holme, E, Kirk, E.P, Korrman, S.H, Morava, Eva, Morris, A, Smeitink, J, Sukhai, R.N, Vallance, H, Jakobs, C, Salomons, G.S

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