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.
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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