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[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: liang d. 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.
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: liang d. 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
[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: liang ds. 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.
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: liang d. 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.
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
He R, Zhang H, Kang L, Li H, Shen M, Zhang Y, Mo R, Liu Y, Song J, Chen Z, Liu Y, Jin Y, Li M, Dong H, Zheng H, Li D, Qin J, Zhang H, Huang M, Liang D, Tian Y, Yao H, Yang Y. He R, et al. Among authors: liang d. Neurology. 2020 Dec 8;95(23):e3129-e3137. doi: 10.1212/WNL.0000000000010912. Epub 2020 Sep 17. Neurology. 2020. PMID: 32943488
[Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria].
He RX, Dong H, Zhang HW, Zhang Y, Kang LL, Li H, Shen M, Mo R, Song JQ, Liu YP, Chen ZH, Liu Y, Jin Y, Li MQ, Zheng H, Li DX, Qin J, Zhang HF, Huang M, Zheng RX, Liang DS, Tian YP, Yao HX, Yang YL. He RX, et al. Among authors: liang ds. Zhonghua Er Ke Za Zhi. 2021 Jun 2;59(6):459-465. doi: 10.3760/cma.j.cn112140-20210311-00204. Zhonghua Er Ke Za Zhi. 2021. PMID: 34102818 Chinese.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, Shen Y, Pang N, Liu Y, Liang C, Qin Z, Luo J, Chen F, Wang J, Zhang Z, Wei H, Du J, Yan H, Duan R, Wang J, Zhang Y, Liao S, Sun K, Wu L, Yu Y. Sun Y, et al. Among authors: liang c, liang d. Hum Mutat. 2022 May;43(5):568-581. doi: 10.1002/humu.24347. Epub 2022 Mar 1. Hum Mutat. 2022. PMID: 35143101
[Clinical practice guidelines for spinal muscular atrophy].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Pan J, Tan H, Zhou M, Liang D, Wu L. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, et al. Among authors: liang d. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):263-268. doi: 10.3760/cma.j.issn.1003-9406.2020.03.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128742 Chinese.
4,826 results