Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency

por Scott Schwoerer, Jessica, Cooper, Gena, van Calcar, Sandra
Publicado 2015

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community()

por Scott Schwoerer, Jessica, van Calcar, Sandra, Rice, Gregory M., Deline, James
Publicado 2016

Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians

por Hansen, Joyanna, Hollander, Suzanne, Drilias, Nicoletta, Van Calcar, Sandra, Rohr, Fran, Bernstein, Laurie
Publicado 2020

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