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Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Among authors: salvin j. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
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Jin J, Salvin J, Lehman S, Hendricks D, Friess A. Jin J, et al. Among authors: salvin j. J AAPOS. 2018 Oct;22(5):411-412. doi: 10.1016/j.jaapos.2018.08.002. Epub 2018 Aug 29. J AAPOS. 2018. PMID: 30171896 No abstract available.
Ocular manifestations of Sturge-Weber syndrome.
Silverstein M, Salvin J. Silverstein M, et al. Among authors: salvin j. Curr Opin Ophthalmol. 2019 Sep;30(5):301-305. doi: 10.1097/ICU.0000000000000597. Curr Opin Ophthalmol. 2019. PMID: 31313748 Review.
57 results