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Page 1
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: paul aj. Mol Genet Metab. 2025 Jan;144(1):109004. doi: 10.1016/j.ymgme.2024.109004. Epub 2024 Dec 24. Mol Genet Metab. 2025. PMID: 39742826
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Wambach JA, Wegner DJ, Kitzmiller J, White FV, Heins HB, Yang P, Paul AJ, Granadillo JL, Eghtesady P, Kuklinski C, Turner T, Fairman K, Stone K, Wilson T, Breman A, Smith J, Schroeder MC, Neidich JA, Whitsett JA, Cole FS. Wambach JA, et al. Among authors: paul aj. Am J Respir Cell Mol Biol. 2024 Jan;70(1):78-80. doi: 10.1165/rcmb.2023-0156LE. Am J Respir Cell Mol Biol. 2024. PMID: 38156804 Free PMC article. No abstract available.
Bullosis diabeticorum in a morbidly obese woman in Haiti.
Paul AJ, Louis RS, Julien AAI, Florvil F, Blaise W. Paul AJ, et al. Arch Clin Cases. 2023 Dec 28;10(4):196-199. doi: 10.22551/2023.41.1004.10274. eCollection 2023. Arch Clin Cases. 2023. PMID: 38155997 Free PMC article.
70 results