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A new test for autism spectrum disorder: Metabolic data from different cell types.
Srikanth S, Cascio L, Pauly R, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L. Srikanth S, et al. Among authors: chen cf. Data Brief. 2021 Nov 23;39:107598. doi: 10.1016/j.dib.2021.107598. eCollection 2021 Dec. Data Brief. 2021. PMID: 34877376 Free PMC article.
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Among authors: chen cf. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.
1,711 results