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Page 1
Imino sugar therapy for type 1 Gaucher disease.
Priestman DA, Platt FM, Dwek RA, Butters TD. Priestman DA, et al. 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: priestman da. 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: priestman da. 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.
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Harlalka GV, et al. Among authors: priestman da. Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7. Brain. 2013. PMID: 24103911 Free PMC article.
63 results