Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropept...

por Stroup, Bridget M., Ney, Denise M., Murali, Sangita G., Rohr, Frances, Gleason, Sally T., van Calcar, Sandra C., Levy, Harvey L.
Publicado 2017

Newborn screening 50 years later: access issues faced by adults with PKU

por Berry, Susan A., Brown, Christine, Grant, Mitzie, Greene, Carol L., Jurecki, Elaina, Koch, Jean, Moseley, Kathryn, Suter, Ruth, van Calcar, Sandra C., Wiles, Judy, Cederbaum, Stephen
Publicado 2013

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

por Singh, Rani H., Rohr, Fran, Frazier, Dianne, Cunningham, Amy, Mofidi, Shideh, Ogata, Beth, Splett, Patricia L., Moseley, Kathryn, Huntington, Kathleen, Acosta, Phyllis B., Vockley, Jerry, Van Calcar, Sandra C.
Publicado 2014

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