Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II

por Yee, Karen S., Wu, Yanyu, Harrington, Magdalena, Waisbren, Susan E.
Publicado 2021

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

por Waisbren, Susan E., Stefanatos, Arianna K., Kok, Teresa M. Y., Ozturk‐Hismi, Burcu
Publicado 2019

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

por García, María Ignacia, Araya, Gabriela, Coo, Soledad, Waisbren, Susan E., de la Parra, Alicia
Publicado 2017

Cognitive functioning in mild hyperphenylalaninemia

por de la Parra, Alicia, García, María Ignacia, Waisbren, Susan E., Cornejo, Verónica, Raimann, Erna
Publicado 2015

Reinstitution of pegvaliase therapy during lactation

por Rohr, Frances, Wessel, Ann, Harding, Cary O., Waisbren, Susan E., Viau, Krista, Kritzer, Amy
Publicado 2022

In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing

por Waisbren, Susan E., Bäck, Danielle K., Liu, Christina, Kalia, Sarah S., Ringer, Steven A., Holm, Ingrid A., Green, Robert C.
Publicado 2014

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

por Ramos-Álvarez, Rodolfo, Kapp, Maili, Rodríguez-Ruiz, María Mercedes, Fausor, Rocío, Bueno-Delgado, María Amor, Ahring, Kirsten, Waisbren, Susan E.
Publicado 2021

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

por Demirbas, Didem, Harris, David J., Arn, Pamela H., Huang, Xiaoping, Waisbren, Susan E., Anselm, Irina, Lerner‐Ellis, Jordan P., Wong, Lee‐Jun, Levy, Harvey L., Berry, Gerard T.
Publicado 2019

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

por Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald
Publicado 2017

Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project

por Genetti, Casie A., Schwartz, Talia S., Robinson, Jill O., VanNoy, Grace E., Petersen, Devan, Pereira, Stacey, Fayer, Shawn, Peoples, Hayley A., Agrawal, Pankaj B., Betting, Wendi N., Holm, Ingrid A., McGuire, Amy L., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H., Parad, Richard B.
Publicado 2018

The BabySeq project: implementing genomic sequencing in newborns

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

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

por Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.
Publicado 2016

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

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