Wu X - Search Results

1

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A. Ferri L, et al. Among authors: wu x. Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25. Clin Genet. 2012. PMID: 21517827

2

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER. Wu X, et al. Hum Mutat. 2011 Aug;32(8):965-77. doi: 10.1002/humu.21530. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21598360 Free PMC article.

3

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ. Benjamin ER, et al. Among authors: wu x. Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657681 Free PMC article.

4

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ. Benjamin ER, et al. Among authors: wu x. J Inherit Metab Dis. 2009 Jun;32(3):424-40. doi: 10.1007/s10545-009-1077-0. Epub 2009 Apr 18. J Inherit Metab Dis. 2009. PMID: 19387866

5

Low frequency of Fabry disease in patients with common heart disease.

Schiffmann R, Swift C, McNeill N, Benjamin ER, Castelli JP, Barth J, Sweetman L, Wang X, Wu X. Schiffmann R, et al. Among authors: wu x. Genet Med. 2018 Jul;20(7):754-759. doi: 10.1038/gim.2017.175. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29227985 Free PMC article.

6

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV. Flanagan JJ, et al. Among authors: wu x. Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121. Hum Mutat. 2009. PMID: 19862843

7

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L. Schiffmann R, et al. Among authors: wu x. J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394. J Am Heart Assoc. 2014. PMID: 24496231 Free PMC article.

8

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Schiffmann R, Bichet DG, Benjamin E, Wu X, Giugliani R. Schiffmann R, et al. Among authors: wu x. Mol Genet Metab Rep. 2019 Jul 19;20:100494. doi: 10.1016/j.ymgmr.2019.100494. eCollection 2019 Sep. Mol Genet Metab Rep. 2019. PMID: 31367522 Free PMC article. No abstract available.

9

A novel hybrid model by integrating TCN with TVFEMD and permutation entropy for monthly non-stationary runoff prediction.

Wang H, Zhao X, Guo Q, Wu X. Wang H, et al. Among authors: wu x. Sci Rep. 2024 Dec 30;14(1):31699. doi: 10.1038/s41598-024-81574-w. Sci Rep. 2024. PMID: 39738143

10

Total synthesis and target identification of marine cyclopiane diterpenes.

Li T, Jiang S, Dai Y, Wu X, Guo H, Shi L, Sang X, Ren L, Wang J, Shi L, Zhou W, Li H, Hao HD. Li T, et al. Among authors: wu x. Nat Commun. 2024 Dec 30;15(1):10851. doi: 10.1038/s41467-024-55189-8. Nat Commun. 2024. PMID: 39738095

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