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2008 1
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61 results

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Page 1
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y, Shuai R, Liang L, 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, Gu X, Han L. Yu Y, et al. Among authors: zhan x. Mol Genet Genomic Med. 2021 Nov;9(11):e1822. doi: 10.1002/mgg3.1822. Epub 2021 Oct 20. Mol Genet Genomic Med. 2021. PMID: 34668645 Free PMC article.
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H. Chang S, et al. Among authors: zhan x. JAMA Netw Open. 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. JAMA Netw Open. 2024. PMID: 38739391 Free PMC article.
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: zhan x. 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.
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X, Zhang H, Maegawa GHB, Wang Y, Gao X, Wang D, Li J. Zhan X, et al. JAMA Netw Open. 2023 Jun 1;6(6):e2319364. doi: 10.1001/jamanetworkopen.2023.19364. JAMA Netw Open. 2023. PMID: 37342037 Free PMC article.
GO-Based Membranes for Desalination.
Ge R, Huo T, Gao Z, Li J, Zhan X. Ge R, et al. Among authors: zhan x. Membranes (Basel). 2023 Feb 10;13(2):220. doi: 10.3390/membranes13020220. Membranes (Basel). 2023. PMID: 36837724 Free PMC article. Review.
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Ding S, Ling S, Liang L, Qiu W, Zhang H, Chen T, Zhan X, Xu F, Gu X, Han L. Ding S, et al. Among authors: zhan x. Orphanet J Rare Dis. 2023 Sep 28;18(1):306. doi: 10.1186/s13023-023-02890-4. Orphanet J Rare Dis. 2023. PMID: 37770946 Free PMC article.
61 results