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Imino sugar therapy for type 1 Gaucher disease.
Priestman DA, Platt FM, Dwek RA, Butters TD. Priestman DA, et al. Among authors: platt fm. Glycobiology. 2000 Nov;10(11):iv-vi. Glycobiology. 2000. PMID: 11221677 No abstract available.
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH. Simpson MA, et al. Among authors: platt fm. Nat Genet. 2004 Nov;36(11):1225-9. doi: 10.1038/ng1460. Epub 2004 Oct 24. Nat Genet. 2004. PMID: 15502825 Free article.
Implications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammals.
Speak AO, Salio M, Neville DC, Fontaine J, Priestman DA, Platt N, Heare T, Butters TD, Dwek RA, Trottein F, Exley MA, Cerundolo V, Platt FM. Speak AO, et al. Among authors: platt fm, platt n. Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):5971-6. doi: 10.1073/pnas.0607285104. Epub 2007 Mar 19. Proc Natl Acad Sci U S A. 2007. PMID: 17372214 Free PMC article.
234 results