Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study
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
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
Get full text
Journal Article
Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)
Vockley, Jerry, Burton, Barbara, Berry, Gerard T., Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Bowden, Alexandra, Chen, Wencong, Chen, Chao‐Yin, Cataldo, Jason, Marsden, Deborah, Kakkis, Emil
Published in Journal of inherited metabolic disease (01.01.2019)
Published in Journal of inherited metabolic disease (01.01.2019)
Get full text
Journal Article
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study
Vockley, Jerry, Burton, Barbara K, Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez-Valle, Amarilis, Chapman, Kimberly A, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Rahman, Syeda, Ray, Kathryn, Reineking, Bridget, Pisani, Laura, Ramirez, Antonio Nino
Published in Journal of inherited metabolic disease (01.09.2023)
Published in Journal of inherited metabolic disease (01.09.2023)
Get full text
Journal Article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation
Dang Do, An N., Chang, Irene J., Jiang, Xutian, Wolfe, Lynne A., Ng, Bobby G., Lam, Christina, Schnur, Rhonda E., Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D., Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y., Wolfenson, Zoe, Perreault, John, Ory, Daniel S., Freeze, Hudson H., Merritt, J. Lawrence, Porter, Forbes D.
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
Get full text
Journal Article
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome
Dines, Jennifer N., Liu, Yajuan J., Neufeld‐Kaiser, Whitney, Sawyer, Taylor, Ishak, Gisele E., Tully, Hannah M., Racobaldo, Melissa, Sanchez‐Valle, Amarilis, Disteche, Christine M., Juusola, Jane, Torti, Erin, McWalter, Kirsty, Doherty, Dan, Dipple, Katrina M.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
Get full text
Journal Article
Treating the whole patient: Facilitating health care for patients facing health inequity
Sanchez-Valle, Amarilis, Hicks, Corey
Published in Molecular genetics and metabolism reports (01.08.2024)
Published in Molecular genetics and metabolism reports (01.08.2024)
Get full text
Journal Article
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Zarate, Yuri A., Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Harako, Sora, Ishitani, Shizuka, Lehesjoki, Anna-Elina, Bierhals, Tatjana, Kloth, Katja, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Anderson, Katherine, Viskochil, David, Edgar-Zarate, Courtney L., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Morrow, Michelle M., Sanchez-Valle, Amarilis, Pappas, John, Rabin, Rachel, Muona, Mikko, Anttonen, Anna-Kaisa, Platzer, Konrad, Luppe, Johannes, Gburek-Augustat, Janina, Kaname, Tadashi, Okamoto, Nobuhiko, Mizuno, Seiji, Kaido, Yusaku, Ohkuma, Yoshiaki, Hirose, Yutaka, Ishitani, Tohru, Kosaki, Kenjiro
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
Get full text
Journal Article
P013: A long-term disease monitoring program in patients with long-chain fatty acid oxidation disorders
Inbar-Feigenberg, Michal, Burton, Barbara, Sanchez-Valle, Amarilis, Vockley, Jerry, Aggarwal, Anjali, Hetzer, Joel, Reineking, Bridget, Grimm, Andrew
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
Get full text
Journal Article
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
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
Published in Neurology. Genetics (01.04.2021)
Published in Neurology. Genetics (01.04.2021)
Get full text
Journal Article
HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome
Sanchez‐Valle, Amarilis, Wang, Xueqing, Potocki, Lorraine, Xia, Zhilian, Kang, Sung‐Hae L., Carlin, Mary E., Michel, Donnice, Williams, Patricia, Cabrera‐Meza, Gerardo, Brundage, Ellen K., Eifert, Anna L., Stankiewicz, Pawel, Cheung, Sau Wai, Lalani, Seema R.
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
Get full text
Journal Article
eP007 - Management of citrullinemia type 1 without the use of medical formula
Sanchez-Valle, Amarilis, Wiseman, Taylor, Spence, Kristin, Childres, Jillian
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
Management of citrullinemia type 1 without the use of medical formula
Sanchez-Valle, Amarilis, Wiseman, Taylor, Spence, Kristin, Childres, Jillian
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
PIGA Mutations Can Mimic Neonatal Hemochromatosis
Flores-Torres, Jaime, Carver, Jane D, Sanchez-Valle, Amarilis
Published in Pediatrics (Evanston) (01.03.2021)
Published in Pediatrics (Evanston) (01.03.2021)
Get full text
Journal Article
EVALUATING TRENDS IN SELF-RATED HISTORIC METABOLIC CONTROL AND TREATMENT HISTORY AMONG PRISM PARTICIPANTS
Hollander, Suzanne, Rose, Sarah, Lindstrom, Kristin, Rowell, Richard, Sanchez-Valle, Amarilis, McNutt, Markey
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
Get full text
Journal Article
Early results from a long-term disease monitoring program in patients with long-chain fatty acid oxidation disorders
Sanchez-Valle, Amarilis, Vockley, Jerry, Burton, Barbara, Inbar-Feigenberg, Michal, Aggarwal, Anjali, Hetzer, Joel, Reineking, Bridget, Grimm, Andrew
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
Get full text
Journal Article