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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 3
2005 5
2006 3
2007 7
2008 12
2009 14
2010 12
2011 9
2012 13
2013 19
2014 18
2015 14
2016 12
2017 17
2018 39
2019 22
2020 39
2021 50
2022 33
2023 44
2024 45
2025 40
2026 12

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439 results

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Page 1
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: zhang h. JAMA Netw Open. 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. JAMA Netw Open. 2024. PMID: 38739391 Free PMC article.
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: zhang h. 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.
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: zhang h. 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.
439 results