Not logged in Share Save
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
Lessons learned from 5-years of experience with pegvaliase in US clinics: A case series Cooney, Erin; Ammous, Zineb; Andersson, Hans; Bender, Tricia; Clague, Gillian; Clifford, Marilyn; Crutcher, Angela; Davis-Keppen, Laura; Havens, Kirsten; Lah, Melissa; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Vucko, Erika; Wardley, Bridget; Wessenberg, Leah Share Save
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females Bier, Caide; Dickey, Kaelin; Bibb, Brittan; Crutcher, Angela; Sponberg, Rebecca; Chang, Richard; Boyer, Monica; Davis-Keppen, Laura; Matthes, Cindy; Tharp, Michelle; Vice, Danielle; Cooney, Erin; Morand, Megan; Ray, Joseph; Lah, Melissa; Mcnutt, Markey; Andersson, Hans C. Share Save
The 2019 US medical genetics workforce: a focus on clinical genetics Jenkins, Brittany D.; Fischer, Catherine G.; Polito, Curt A.; Maiese, Deborah R.; Keehn, Alisha S.; Lyon, Megan; Edick, Mathew J.; Taylor, Matthew R. G.; Andersson, Hans C.; Bodurtha, Joann N.; Blitzer, Miriam G.; Muenke, Maximilian; Watson, Michael S. Share Save
Share Save
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial Witters, Peter; Andersson, Hans; Jaeken, Jaak; Tseng, Laura; van Karnebeek, Clara D. M.; Lefeber, Dirk J.; Cassiman, David; Morava, Eva Share Save
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia Manoli, Irini; Sysol, Justin R.; Epping, Madeline W.; Li, Lina; Wang, Cindy; Sloan, Jennifer L.; Pass, Alexandra; Gagne, Jack; Ktena, Yiouli P.; Li, Lingli; Trivedi, Niraj S.; Ouattara, Bazoumana; Zerfas, Patricia M.; Hoffmann, Victoria; Abu-Asab, Mones; Tsokos, Maria G.; Kleiner, David E.; Garone, Caterina; Cusmano-Ozog, Kristina; Enns, Gregory M.; Vernon, Hilary J.; Andersson, Hans C.; Grunewald, Stephanie; Elkahloun, Abdel G.; Girard, H Christiane L.; Schnermann, Jurgen; Dimauro, Salvatore; Andres-Mateos, Eva; Vandenberghe, Luk H.; Chandler, Randy J.; Venditti, Charles P. Share Save
Share Save
Share Save
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry Mistry, Pramod K.; Batista, Julie L.; Andersson, Hans C.; Balwani, Manisha; Burrow, Thomas Andrew; Charrow, Joel; Kaplan, Paige; Khan, Aneal; Kishnani, Priya S.; Kolodny, Edwin H.; Rosenbloom, Barry; Scott, C. Ronald; Weinreb, Neal Share Save
Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry Weinreb, Neal J.; Batista, Julie; Andersson, Hans C.; Balwani, Manisha; Burrow, T. Andrew; Charrow, Joel; Kaplan, Paige; Khan, Aneal; Kishnani, Priya S.; Kolodny, Edwin H.; Rosenbloom, Barry E.; Scott, C. Ronald; Mistry, Pramod K. Share Save
Autism in patients with propionic acidemia Witters, Peter; Debbold, Eric; Crivelly, Kea; Kerckhove, Kristel Vande; Corthouts, Karen; Debbold, Brett; Andersson, Hans; Vannieuwenborg, Lena; Geuens, Sam; Baumgartner, Matthias; Kozicz, Tamas; Settles, Lisa; Morava, Eva Share Save
Share Save
Share Save
Share Save
Share Save
Phenylalanine hydroxylase deficiency: diagnosis and management guideline Vockley, Jerry; Andersson, Hans C.; Antshel, Kevin M.; Braverman, Nancy E.; Burton, Barbara K.; Frazier, Dianne M.; Mitchell, John; Smith, Wendy E.; Thompson, Barry H.; Berry, Susan A. Share Save
Share Save
Glycoalkaloid and Calystegine Levels in Table Potato Cultivars Subjected to Wounding, Light, and Heat Treatments Petersson, Erik V.; Arif, Usman; Schulzova, Vera; Krtkova, Veronika; Hajslova, Jana; Meijer, Johan; Andersson, Hans Christer; Jonsson, Lisbeth; Sitbon, Folke Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}