Cognitive functioning in mild hyperphenylalaninemia

by Alicia de la Parra, María Ignacia García, Susan E. Waisbren, Verónica Cornejo, Erna Raimann
Published 2015-12-01

Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation

by María Ignacia García, Gabriela Araya, Soledad Coo, Susan E. Waisbren, Alicia de la Parra
Published 2017-06-01

Adaptation and Validation of a Questionnaire to Evaluate Knowledge of the Low Phe Diet in PKU

by Rodolfo Ramos-Álvarez, Maili Kapp, María Mercedes Rodríguez-Ruiz, Rocío Fausor, María Amor Bueno-Delgado, Kirsten Ahring, Susan E. Waisbren
Published 2021-08-01

The BabySeq project: implementing genomic sequencing in newborns

by Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Published 2018-07-01

The natural history of classic galactosemia: lessons from the GalNet registry

by M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Published 2019-04-01