Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Ex...

Por Waisbren, Susan E., He, Jianping, McCarter, Robert
Publicado no JIMD Rep (2015)

Neuropsychological Outcomes in Fatty Acid Oxidation Disorders: 85 Cases Detected by Newborn Screening

Por Waisbren, Susan E., Landau, Yuval, Wilson, Jenna, Vockley, Jerry
Publicado em 2013

IMPACT OF FALSE-POSITIVE NEWBORN METABOLIC SCREENING RESULTS ON EARLY HEALTH CARE UTILIZATION

Por Lipstein, Ellen A., Perrin, James M., Waisbren, Susan E., Prosser, Lisa A.
Publicado em 2009

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 no Genet Med (2014)

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

Por Gentile, Jennifer K., Tan, Wen-Hann, Horowitz, Lucia T., Bacino, Carlos A., Skinner, Steven A., Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Lee, Hye-Seung, Sahoo, Trilochan, Waisbren, Susan E., Bird, Lynne M., Peters, Sarika U.
Publicado em 2010

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

Por Shapiro, Elsa, Bernstein, Jessica, Adams, Heather R., Barbier, Ann J., Buracchio, Teresa, Como, Peter, Delaney, Kathleen A., Eichler, Florian, Goldsmith, Jonathan C., Hogan, Melissa, Kovacs, Sarrit, Mink, Jonathan W., Odenkirchen, Joanne, Parisi, Melissa A., Skrinar, Alison, Waisbren, Susan E., Mulberg, Andrew E.
Publicado no Mol Genet Metab (2016)

A Therapeutic Trial of Pro-methylation Dietary Supplements in Angelman Syndrome

Por Bird, Lynne M., Tan, Wen-Hann, Bacino, Carlos A., Peters, Sarika U., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Mohan, K. Naga, Nespeca, Mark P., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Beaudet, Arthur L.
Publicado em 2011

Angelman Syndrome: Mutations Influence Features in Early Childhood

Por Tan, Wen-Hann, Bacino, Carlos A., Skinner, Steven A., Anselm, Irina, Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Gentile, Jennifer K., Glaze, Daniel G., Horowitz, Lucia T., Kothare, Sanjeev V., Lee, Hye-Seung, Nespeca, Mark P., Peters, Sarika U., Sahoo, Trilochan, Sarco, Dean, Waisbren, Susan E., Bird, Lynne M.
Publicado em 2011

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 no J Inherit Metab Dis (2016)