A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report

por Odom, John, Gieron-Korthals, Maria, Shulman, Dorothy, Newkirk, Patricia, Prijoles, Eloise, Sanchez-Valle, Amarilis
Publicado 2016

Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study

por Vockley, Jerry, Burton, Barbara, Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Chapman, Kimberly, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Cataldo, Jason
Publicado 2020

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis

por Waisbren, Susan, Burton, Barbara K., Feigenbaum, Annette, Konczal, Laura L., Lilienstein, Joshua, McCandless, Shawn E., Rowell, Richard, Sanchez-Valle, Amarilis, Whitehall, Kaleigh B., Longo, Nicola
Publicado 2021

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

por Longo, Nicola, Dimmock, David, Levy, Harvey, Viau, Krista, Bausell, Heather, Bilder, Deborah A., Burton, Barbara, Gross, Christel, Northrup, Hope, Rohr, Fran, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Stuy, Mary, Thomas, Janet, Vockley, Jerry, Zori, Roberto, Harding, Cary O.
Publicado 2018

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

por Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.
Publicado 2021