未登录.png)
分享.png)
收藏分享 收藏 分享 收藏 分享 收藏 A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
Hwang, Soojin; Bae, Hyunwoo; Yoon, Ji-Hee; Kim, Dohyung; Do, Hyo-Sang; Heo, Sun Hee; Kim, Soyoung; Yoo, Han-Wook; Istaiti, Majdolen; Zimran, Ari; Lee, Beom Hee 分享 收藏 Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult CareMunns, Craig F.; Yoo, Han-Wook; Jalaludin, Muhammad Yazid; Vasanwala, Rashida; Chandran, Manju; Rhee, Yumie; But, Wai Man; Kong, Alice Pik-Shan; Su, Pen-Hua; Numbenjapon, Nawaporn; Namba, Noriyuki; Imanishi, Yasuo; Clifton-Bligh, Roderick J.; Luo, Xiaoping; Xia, Weibo 分享 收藏 Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry RegistryHopkin, Robert J.; Cabrera, Gustavo H.; Jefferies, John L.; Yang, Meng; Ponce, Elvira; Brand, Eva; Feldt-Rasmussen, Ulla; Germain, Dominique P.; Guffon, Nathalie; Jovanovic, Ana; Kantola, Ilkka; Karaa, Amel; Martins, Ana M.; Tondel, Camilla; Wilcox, William R.; Yoo, Han-Wook; Burlina, Alessandro P.; Mauer, Michael 分享 收藏 Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 StudyBrandi, Maria Luisa; Jan de Beur, Suzanne; Briot, Karine; Carpenter, Thomas; Cheong, Hae Il; Cohen-Solal, Martine; Crowley, Rachel K.; Eastell, Richard; Imanishi, Yasuo; Imel, Erik A.; Ing, Steven W.; Insogna, Karl; Ito, Nobuaki; Javaid, Kassim; Kamenicky, Peter; Keen, Richard; Kubota, Takuo; Lachmann, Robin H.; Perwad, Farzana; Pitukcheewanont, Pisit; Portale, Anthony; Ralston, Stuart H.; Tanaka, Hiroyuki; Weber, Thomas J.; Yoo, Han-Wook; Sun, Wei; Williams, Angela; Nixon, Annabel; Takeuchi, Yasuhiro 分享 收藏 Identification of a novel therapeutic target underlying atypical manifestation of Gaucher diseaseKim, Eun Na; Do, Hyo-Sang; Jeong, Hwangkyo; Kim, Taeho; Heo, Sun Hee; Kim, Yoo-Mi; Cheon, Chong Kun; Lee, Yena; Choi, Yunha; Choi, In Hee; Choi, Jeongmin; Yoo, Han-Wook; Kim, Chong Jai; Zimran, Ari; Kim, Kyunggon; Lee, Beom Hee 分享 收藏 Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone DeficiencyLee, Yun Jeong; Choi, Yunha; Yoo, Han-Wook; Lee, Young Ah; Shin, Choong Ho; Choi, Han Saem; Kim, Ho-Seong; Kim, Jae Hyun; Moon, Jung Eun; Ko, Cheol Woo; Ahn, Moon Bae; Suh, Byung-Kyu; Choi, Jin-Ho 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and GaucheromaRamaswami, Uma; Mengel, Eugen; Berrah, Abdelkrim; AlSayed, Moeenaldeen; Broomfield, Alex; Donald, Aimee; El Dein, Hadeel M. Seif; Freisens, Selena; Hwu, Wuh-Liang; Peterschmitt, M. Judith; Yoo, Han-Wook; Abdelwahab, Magy 分享 收藏 Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease直接测量ATP7B肽在诊断Wilson病方面非常有效Collins, Christopher J.; Yi, Fan; Dayuha, Remwilyn; Duong, Phi; Horslen, Simon; Camarata, Michelle; Coskun, Ayse K.; Houwen, Roderick H. J.; Pop, Tudor L.; Zoller, Heinz; Yoo, Han-Wook; Jung, Sung Won; Weiss, Karl H.; Schilsky, Michael L.; Ferenci, Peter; Hahn, Si Houn 分享 收藏 分享 收藏 The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effectsKim, Yoo-Mi; Choi, Jin-Ho; Kim, Gu-Hwan; Sohn, Young Bae; Ko, Jung Min; Lee, Beom Hee; Cheon, Chong Kun; Lim, Han Hyuk; Heo, Sun-Hee; Yoo, Han-Wook 分享 收藏 Association between ARID2 and RAS-MAPK pathway in intellectual disability and short statureKang, Eungu; Kang, Minji; Ju, Younghee; Lee, Sang-Joon; Lee, Yong-Seok; Woo, Dong-Cheol; Sung, Young Hoon; Baek, In-Jeoung; Shim, Woo Hyun; Son, Woo-Chan; Choi, In Hee; Seo, Eul-Ju; Yoo, Han-Wook; Han, Yong-Mahn; Lee, Beom Hee 分享 收藏 SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro (vol 11, 209, 2020)Ju, Younghee; Park, Jun Sung; Kim, Daejeong; Kim, Bumsoo; Lee, Jeong Ho; Nam, Yoonkey; Yoo, Han-Wook; Lee, Beom Hee; Han, Yong-Mahn 分享 收藏 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
