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Items: 1 to 20 of 109

1.
Peiyao Wang, Lingwei Hu, Yuhe Chen, Duo Zhou, Shasha Zhu, Ting Zhang, Ziyan Cen, Qimin He, Benqing Wu, Xinwen Huang
Orphanet J Rare Dis. 2025; 20: 17. Published online 2025 Jan 11. doi: 10.1186/s13023-025-03532-7
PMCID:
PMC11724517
2.
Vinod Tiwari, Byungchang Jin, Olivia Sun, Edwin D.J. Lopez Gonzalez, Min-Hsuan Chen, Xiwei Wu, Hardik Shah, Andrew Zhang, Mark A. Herman, Cassandra N. Spracklen, Russell P. Goodman, Charles Brenner
Version 1. bioRxiv. Preprint. 2024 Dec 27. doi: 10.1101/2024.12.27.630525
PMCID:
PMC11703153
3.
John E. Walker
J Inherit Metab Dis. 2025 Jan; 48(1): e12818. Published online 2024 Nov 24. doi: 10.1002/jimd.12818
PMCID:
PMC11670154
4.
Eva Richard, Ainhoa Martínez‐Pizarro, Lourdes R. Desviat
J Inherit Metab Dis. 2024 Nov; 47(6): 1269–1277. Published online 2024 Oct 24. doi: 10.1002/jimd.12807
PMCID:
PMC11586603
5.
Johannes Häberle
J Inherit Metab Dis. 2024 Nov; 47(6): 1129–1133. Published online 2024 Jul 12. doi: 10.1002/jimd.12772
PMCID:
PMC11586598
6.
Jun Kido, Georgios Makris, Saikat Santra, Johannes Häberle
J Inherit Metab Dis. 2024 Nov; 47(6): 1144–1156. Published online 2024 Mar 19. doi: 10.1002/jimd.12722
PMCID:
PMC11586594
7.
Toni Vuković, Li Eon Kuek, Barbara Yu, Georgios Makris, Johannes Häberle
J Inherit Metab Dis. 2024 Nov; 47(6): 1157–1174. Published online 2024 Jul 17. doi: 10.1002/jimd.12768
PMCID:
PMC11586593
8.
Joel Thomas, Astly George, Sharmin Mrittika, Bilal Ahmad, Gisela Wilcox
Cureus. 2024 Nov; 16(11): e74028. Published online 2024 Nov 19. doi: 10.7759/cureus.74028
PMCID:
PMC11581830
9.
Sotiria Tavoulari, Denis Lacabanne, Gonçalo C. Pereira, Chancievan Thangaratnarajah, Martin S. King, Jiuya He, Suvagata R. Chowdhury, Lisa Tilokani, Shane M. Palmer, Julien Prudent, John E. Walker, Edmund R.S. Kunji
Mol Metab. 2024 Dec; 90: 102047. Published online 2024 Oct 16. doi: 10.1016/j.molmet.2024.102047
PMCID:
PMC11539162
10.
Kiyoshi Hayasaka
Intern Med. 2024 Jul 15; 63(14): 1977–1986. Published online 2023 Nov 13. doi: 10.2169/internalmedicine.2595-23
PMCID:
PMC11309867
11.
Mai Okano, Masahiro Yasuda, Yui Shimomura, Yoshikazu Matsuoka, Yasumasa Shirouzu, Tatsuya Fujioka, Masatoshi Kyo, Shoji Tsuji, Kazunari Kaneko, Hirofumi Hitomi
Mol Genet Metab Rep. 2024 Sep; 40: 101096. Published online 2024 May 30. doi: 10.1016/j.ymgmr.2024.101096
PMCID:
PMC11170474
12.
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He
Front Genet. 2024; 15: 1395988. Published online 2024 May 28. doi: 10.3389/fgene.2024.1395988
PMCID:
PMC11165094
13.
Tao Jiang, Wen-Xian Ouyang, Yan-Fang Tan, Ying Yu, Xiao-Mei Qin, Hai-Yan Luo, Lian Tang, Hui Zhang, Shuang-Jie Li
Clinics (Sao Paulo) 2024 Jan-Dec; 79: 100383. Published online 2024 May 25. doi: 10.1016/j.clinsp.2024.100383
PMCID:
PMC11153050
14.
Hui Lin, Hong Jiang, Qiang Chen, Xiang Pan, Mei Deng, Xiang-Ran Cai, Yuan-Zhi Lu, Yuan-Zong Song, Jun-Cheng Liu
Discov Oncol. 2024 Dec; 15: 200. Published online 2024 May 31. doi: 10.1007/s12672-024-01059-0
PMCID:
PMC11143117
15.
Yao Du, Yang-Yang Fu, Yang Yue, Bing Han, Wen-Jie Zhang, De-Cai Yu, Xiao-Jie Bian
Front Nutr. 2024; 11: 1364866. Published online 2024 Mar 22. doi: 10.3389/fnut.2024.1364866
PMCID:
PMC11025469
16.
Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang
Orphanet J Rare Dis. 2024; 19: 159. Published online 2024 Apr 12. doi: 10.1186/s13023-024-03148-3
PMCID:
PMC11015677
17.
Takanori Suzuki, Kentaro Matsuura, Naoto Imura, Hayato Kawamura, Kayoko Kuno, Kei Fujiwara, Shunsuke Nojiri, Shogo Ito, Takao Togawa, Hiromi Kataoka
Intern Med. 2024 Mar 15; 63(6): 833–837. Published online 2023 Jul 26. doi: 10.2169/internalmedicine.1954-23
PMCID:
PMC11008984
18.
Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz
Am J Ophthalmol Case Rep. 2024 Jun; 34: 102044. Published online 2024 Mar 28. doi: 10.1016/j.ajoc.2024.102044
PMCID:
PMC11004497
19.
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang
Int J Neonatal Screen. 2024 Mar; 10(1): 19. Published online 2024 Mar 5. doi: 10.3390/ijns10010019
PMCID:
PMC10971432
20.
Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung
Int J Neonatal Screen. 2024 Mar; 10(1): 23. Published online 2024 Mar 11. doi: 10.3390/ijns10010023
PMCID:
PMC10970889

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