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: e hs.
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.
From 69 symptomatic patients of the c.482G > A group, more patients presented with later onset, and the top six common clinical symptoms at disease onset were developmental delay (59.4%), lower limb weakness and poor exercise tolerance (50.7%), cognitive decline …
From 69 symptomatic patients of the c.482G > A group, more patients presented with later onset, and the top six common clinical sy …