Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study

por Viau, Krista, Martell, Leslie, Wessel, Ann, Rohr, Fran, Hollander, Suzanne, Putman, Melissa S., Sacharow, Stephanie
Publicado 2023

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation

por Al Absi, Hebah S., Sacharow, Stephanie, Al Zein, Naser, Al Shamsi, Aisha, Al Teneiji, Amal
Publicado 2021

First 1.5 years of pegvaliase clinic: Experiences and outcomes

por Sacharow, Stephanie, Papaleo, Cassandra, Almeida, Kyla, Goodlett, Benjamin, Kritzer, Amy, Levy, Harvey, Martell, Leslie, Wessel, Ann, Viau, Krista
Publicado 2020

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

por Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ
Publicado 2013

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

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics()

por Adams, Darius, Andersson, Hans C., Bausell, Heather, Crivelly, Kea, Eggerding, Caroline, Lah, Melissa, Lilienstein, Joshua, Lindstrom, Kristin, McNutt, Markey, Ray, Joseph W., Saavedra, Heather, Sacharow, Stephanie, Starin, Danielle, Tiffany-Amaro, Jennifer, Thomas, Janet, Vucko, Erika, Wessenberg, Leah B., Whitehall, Kaleigh
Publicado 2021

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

por Salyakina, Daria, Cukier, Holly N., Lee, Joycelyn M., Sacharow, Stephanie, Nations, Laura D., Ma, Deqiong, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.
Publicado 2011

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

por Hedges, Dale J, Hamilton-Nelson, Kara L, Sacharow, Stephanie J, Nations, Laura, Beecham, Gary W, Kozhekbaeva, Zhanna M, Butler, Brittany L, Cukier, Holly N, Whitehead, Patrice L, Ma, Deqiong, Jaworski, James M, Nathanson, Lubov, Lee, Joycelyn M, Hauser, Stephen L, Oksenberg, Jorge R, Cuccaro, Michael L, Haines, Jonathan L, Gilbert, John R, Pericak-Vance, Margaret A
Publicado 2012