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Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D, Shi C, Zhang Y, Li S, Ye Y, Yuan G, Miu T, Ma H, Diao S, Su C, Li Z, Li H, Zhuang G, Wang Y, Lu F, Gu X, Zhou W, Xiao X, Huang W, Wei T, Hao H. Xiao D, et al. Among authors: xiao x. Front Genet. 2024 Jul 15;15:1403913. doi: 10.3389/fgene.2024.1403913. eCollection 2024. Front Genet. 2024. PMID: 39076170 Free PMC article.
[Report of a case with Jackson-Lawler syndrome].
Hao H, Song YZ, Xiao X. Hao H, et al. Among authors: xiao x. Zhonghua Er Ke Za Zhi. 2006 Jan;44(1):58-9. Zhonghua Er Ke Za Zhi. 2006. PMID: 16624009 Chinese. No abstract available.
[Muscle-eye-brain disease in twin sisters: case report].
Hao H, Song YZ, Xiao X, Zhang RJ, Liu ZH. Hao H, et al. Among authors: xiao x. Zhongguo Dang Dai Er Ke Za Zhi. 2006 Oct;8(5):435-6. Zhongguo Dang Dai Er Ke Za Zhi. 2006. PMID: 17052411 Chinese. No abstract available.
[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
Tang H, Hao H, Tang SH, Chen X, Liu F, Cha QB, Li YQ, Li HJ, Sun L, Yu M, Xiao X, Zhou TH. Tang H, et al. Among authors: xiao x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):62-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19199254 Chinese.
12,350 results
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