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A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L, Shuai R, Yu Y, Qiu W, Shen L, Wu S, Wei H, Chen Y, Yang C, Xu P, Chen X, Zou H, Feng J, Niu T, Hu H, Ye J, Zhang H, Lu D, Gong Z, Zhan X, Ji W, Yu Y, Gu X, Han L. Liang L, et al. Among authors: zou h. Orphanet J Rare Dis. 2021 Jan 7;16(1):22. doi: 10.1186/s13023-020-01632-0. Orphanet J Rare Dis. 2021. PMID: 33413471 Free PMC article.
Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations.
He F, Yang R, Huang X, Tian Y, Pei X, Bohn MK, Zou L, Wang Y, Li H, Wang T, Gu M, Jiang T, Chen X, Zou H, Wei H, Tian W, Tang T, Adeli K, Wang Z. He F, et al. Among authors: zou h, zou l. Front Mol Biosci. 2021 Dec 16;8:719866. doi: 10.3389/fmolb.2021.719866. eCollection 2021. Front Mol Biosci. 2021. PMID: 34977148 Free PMC article.
Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts.
Tong F, Wang J, Xiao R, Wu BB, Zou CC, Wu DW, Wang H, Zou H, Han LS, Yang L, Zou L, Hei MY, Yang RL, Yuan TM, Wen W, Huang XW, Gu XF, Yang YL, Huang YL, Zhang YJ, Yu YG, Xu ZF, Zhou WH, Zhao ZY. Tong F, et al. Among authors: zou cc, zou h, zou l. World J Pediatr. 2022 Apr;18(4):235-242. doi: 10.1007/s12519-022-00522-8. Epub 2022 Mar 15. World J Pediatr. 2022. PMID: 35292922 No abstract available.
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T, Fan C, Huang Y, Feng J, Zhang Y, Miao J, Wang X, Li Y, Huang C, Jin W, Tang C, Feng L, Yin Y, Zhu B, Sun M, Liu X, Xiang J, Tan M, Jia L, Chen L, Huang H, Peng H, Sun X, Gu X, Peng Z, Zhu B, Zou H, Han L. Chen T, et al. Among authors: zou h. JAMA Netw Open. 2023 Sep 5;6(9):e2331162. doi: 10.1001/jamanetworkopen.2023.31162. JAMA Netw Open. 2023. PMID: 37656460 Free PMC article.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS. Wu SN, et al. Among authors: zou h. World J Pediatr. 2024 Aug;20(8):848-858. doi: 10.1007/s12519-023-00770-2. Epub 2023 Dec 9. World J Pediatr. 2024. PMID: 38070096 Free PMC article.
5,781 results