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Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Shinawi M, Wegner DJ, Paul AJ, Buchser W, Schmidt R, Sharma J, Sardiello M, Sisco K, Manwaring L, Reynolds M, Fulton R, Fronick C, Shaver A, Huang TY, Carroll A, Roessler K, Halpern AL; Undiagnosed Diseases Network; Dickson PI, Wambach JA. Shinawi M, et al. Among authors: huang ty. Mol Genet Metab. 2024 Dec 24;144(1):109004. doi: 10.1016/j.ymgme.2024.109004. Online ahead of print. Mol Genet Metab. 2024. PMID: 39742826
Deep learning-enabled filter-free fluorescence microscope.
Dai B, You S, Wang K, Long Y, Chen J, Upreti N, Peng J, Zheng L, Chang C, Huang TJ, Guan Y, Zhuang S, Zhang D. Dai B, et al. Among authors: huang tj. Sci Adv. 2025 Jan 3;11(1):eadq2494. doi: 10.1126/sciadv.adq2494. Epub 2025 Jan 1. Sci Adv. 2025. PMID: 39742468 Free PMC article.
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