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Phenylketonuria in adults: we know plenty, but there is much more to learn Harding, Cary O.; Arnold, Georgianne; Berry, Gerard; Christ, Shawn E.; Grange, Dorothy K.; Jurecki, Elaina; Levy, Harvey; Lichter-Konecki, Uta; Longo, Nicola; Mcnutt, Markey; Meachum, Page; Sacharow, Stephanie; Shayota, Brian; Thomas, Janet; Vucko, Erika 分享 收藏
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency Christ, Shawn E.; Arnold, Georgianne; Lichter-Konecki, Uta; Berry, Gerard T.; Grange, Dorothy K.; Harding, Cary O.; Jurecki, Elaina; Levy, Harvey; Longo, Nicola; Morotti, Hadley; Sacharow, Stephanie; Thomas, Janet; White, Desiree A. 分享 收藏
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Latest results from the COMPOSE® Phase 1/2 trial of pegtibatinase, a novel investigational enzyme replacement therapy for classical homocystinuria (HCU) Ganesh, J.; Thomas, J.; Smith, W.; Lah, M.; Kudrow, D.; Guner, J.; McDermott, S.; Vaidya, S.; Wilkening, L.; Levy, H.; Ficicioglu, C. 分享 收藏
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The hypergonadotropic hypogonadism conundrum of classic galactosemia Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E. Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P.; Levy, Harvey L.; Wilkins-Haug, Louise E.; Rubio-Gozalbo, M. Estela; Berry, Gerard T. 分享 收藏
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The Genetic Landscape and Epidemiology of Phenylketonuria 苯丙酮尿症的遗传景观和流行病学 Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Dordevic, Maja; Desviat, Lourdes R.; Eliyahu, Aviva; Evers, Roeland A. F.; Fajkusova, Lena; Feillet, Francois; Bonfim-Freitas, Pedro E.; Gizewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey, I; Leuzzi, Vincenzo; Levy, Harvey L.; Lichter-Konecki, Uta; Muntau, Ania C.; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander, V; Porta, Francesco; Rohrbach, Marianne; Scholl-Burgi, Sabine; Specola, Norma; Stojiljkovic, Maja; Shen, Nan; Santana-da Silva, Luiz C.; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thony, Beat; Trefz, Friedrich K.; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F.; Garbade, Sven F.; Blau, Nenad 分享 收藏
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics Levy, Harvey; Lamppu, Diana; Anastosoaie, Vera; Baker, Jennifer L.; DiBona, Kevin; Hawthorne, Sarah; Lindenberger, Jessica; Kinch, Deborah; Seymour, Albert; McIlduff, Mark; Watling, Sharon; Vockley, Jerry 分享 收藏
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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria 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. 分享 收藏
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency Demirbas, Didem; Huang, Xiaoping; Daesety, Vikram; Feenstra, Susan; Haskovic, Minela; Qi, Wanshu; Gubbels, Cynthia S.; Hecht, Leah; Levy, Harvey L.; Waisbren, Susan E.; Berry, Gerard T. 分享 收藏
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria Burton, Barbara K.; Jones, Kyle Bradford; Cederbaum, Stephen; Rohr, Fran; Waisbren, Susan; Irwin, Debra E.; Kim, Gilwan; Lilienstein, Joshua; Alvarez, Ignacio; Jurecki, Elaina; Levy, Harvey 分享 收藏
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