日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

丙酸血症临床事件发生频率特征及生物标志物评估:一项自然史研究

Schwahn, Bernd C; Berry, Gerard T; Vernon, Hilary J; Li, Hong; Merritt Ii, J Lawrence; Schiff, Manuel; Chabrol, Brigitte; De Las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight D; Burton, Barbara K; Grunewald, Stephanie; Diaz, George A; Ficicioglu, Can; Morgan, Thomas; Luo, Junxiang; Attarwala, Husain; Liang, Min; Perera, Sue; Sikirica, Vanja

Phenylketonuria in adults: we know plenty, but there is much more to learn

成人苯丙酮尿症:我们了解很多,但仍有许多需要学习。

Harding, Cary O; Arnold, Georgianne; Berry, Gerard T; 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

Health and well-being of maturing adults with classic galactosemia

经典型半乳糖血症成年患者的健康和福祉

Garrett, Olivia S; Druss, Jared J; Vos, E Naomi; Fu, Yu-Ting Debbie; Lucia, Stephanie; Greenstein, Patricia E; Bauer, Anna; Sykut-Cegielska, Jolanta; Stepien, Karolina M; Arbuckle, Cameron; Grafakou, Olga; Meyer, Uta; Vanhoutvin, Nele; Pané, Adriana; Bosch, Annet M; Rubio-Gozalbo, Estela; Berry, Gerard T; Fridovich-Keil, Judith L

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder

重塑半乳糖代谢紊乱症的治疗格局

Rubio-Gozalbo, M Estela; Naomi Vos, E; Rivera, Isabel; Lai, Kent; Berry, Gerard T

Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null

GALTp.Ser135Leu/Null 患者的原位肝移植

Simpson, Kara; MacLeod, Erin L; Clayton, Julia; Yazigi, Nada A; Rubio-Gozalbo, M Estela; Fridovich-Keil, Judith L; Berry, Gerard T; Ah Mew, Nicholas

The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy

利用突触外肌醇治疗发育性和癫痫性脑病

Naomi Vos, E; Demirbas, Didem; Rodan, Lance; Yang, Edward; Prabhu, Sanjay P; Chen, Jie; Huang, Xiaoping; Haynes, Robin L; Lehtinen, Maria K; Bennett, Michael J; He, Miao; Pearl, Phillip L; Rubio-Gozalbo, M Estela; Poduri, Annapurna; Berry, Gerard T

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

甲基丙二酸血症伴脂肪营养不良与FGF21升高和甲基丙二酰化异常有关

Manoli, Irini; Sysol, Justin R; Head, PamelaSara E; Epping, Madeline W; Gavrilova, Oksana; Crocker, Melissa K; Sloan, Jennifer L; Koutsoukos, Stefanos A; Wang, Cindy; Ktena, Yiouli P; Mendelson, Sophia; Pass, Alexandra R; Zerfas, Patricia M; Hoffmann, Victoria; Vernon, Hilary J; Fletcher, Laura A; Reynolds, James C; Tsokos, Maria G; Stratakis, Constantine A; Voss, Stephan D; Chen, Kong Y; Brown, Rebecca J; Hamosh, Ada; Berry, Gerard T; Chen, Xiaoyuan Shawn; Yanovski, Jack A; Venditti, Charles P

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

PHEFREE纵向自然史研究的初步结果:苯丙氨酸羟化酶(PAH)缺乏症患者队列的横断面观察

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

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

先天性糖基化障碍前沿联盟,一项针对自然史队列中 280 名个体进行的第 5 年横断面研究报告

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; Thies, Jenny; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C; Morava, Eva

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

经典型半乳糖血症患者的脑功能:半乳糖血症网络(GalNet)成员综述

Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A; Scholl-Bürgi, Sabine; Schwartz, Ida V D; Sdogou, Triantafyllia; Shakerdi, Loai A; Skouma, Anastasia; Stepien, Karolina M; Treacy, Eileen P; Waisbren, Susan; Berry, Gerard T; Rubio-Gozalbo, M Estela