High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Authors: Molema, F., Haijes, H.A., Janssen, M.C., Bosch, A.M., van Spronsen, F.J., Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J.M., van der Ploeg, A.T., Wagenmakers, M.A., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., de Vries, M.C., Fuchs, S., Langendonk, J.G., Rizopoulos, D., van Hasselt, P.M., Williams, M.

Source: In Clinical Nutrition May 2021 40(5):3622-3630

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Authors: Haijes, H.A., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jans, Judith J.M.

Source: In Molecular Genetics and Metabolism Reports March 2020 22