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[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].
Kang LL, Liu YP, Shen M, Chen ZH, Song JQ, He RX, Liu Y, Zhang Y, Dong H, Li MQ, Jin Y, Zheng H, Wang Q, Ding Y, Li XY, Li DX, Li HX, Liu XQ, Xiao HJ, Jiang YW, Xiong H, Zhang CY, Wang ZX, Yuan Y, Liang DS, Tian YP, Yang YL. Kang LL, et al. Among authors: dong h. Zhonghua Er Ke Za Zhi. 2020 Jun 2;58(6):468-475. doi: 10.3760/cma.j.cn112140-20200401-00339. Zhonghua Er Ke Za Zhi. 2020. PMID: 32521958 Chinese.
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
He R, Mo R, Zhang Y, Shen M, Kang L, Chen Z, Liu Y, Song J, Zhang H, Yao H, Liu Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Wei H, Li D, Li X, Zheng R, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y. He R, et al. Among authors: dong h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10;39(6):565-570. doi: 10.3760/cma.j.cn511374-20210211-00130. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35773756 Chinese.
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
He R, Mo R, Shen M, Kang L, Song J, Liu Y, Chen Z, Zhang H, Yao H, Liu Y, Zhang Y, Dong H, Jin Y, Li M, Qin J, Zheng H, Chen Y, Li D, Wei H, Li X, Zhang H, Huang M, Zhang C, Jiang Y, Liang D, Tian Y, Yang Y. He R, et al. Among authors: dong h. Orphanet J Rare Dis. 2020 Aug 3;15(1):200. doi: 10.1186/s13023-020-01485-7. Orphanet J Rare Dis. 2020. PMID: 32746869 Free PMC article.
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L, Liu Y, Shen M, Liu Y, He R, Song J, Jin Y, Li M, Zhang Y, Dong H, Liu X, Yan H, Qin J, Zheng H, Chen Y, Li D, Wei H, Zhang H, Sun L, Zhu Z, Liang D, Yang Y. Kang L, et al. Among authors: dong h. J Inherit Metab Dis. 2020 May;43(3):409-423. doi: 10.1002/jimd.12183. Epub 2019 Nov 26. J Inherit Metab Dis. 2020. PMID: 31622506
11,448 results
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