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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM. te Vruchte D, et al. Among authors: porter fd. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835. J Clin Invest. 2014. PMID: 24487591 Free PMC article.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Yanjanin NM, et al. Among authors: porter fd. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19415691 Free PMC article.
Oxidative stress in Niemann-Pick disease, type C.
Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD. Fu R, et al. Among authors: porter fd. Mol Genet Metab. 2010 Oct-Nov;101(2-3):214-8. doi: 10.1016/j.ymgme.2010.06.018. Epub 2010 Jul 27. Mol Genet Metab. 2010. PMID: 20667755 Free PMC article.
Altered vitamin E status in Niemann-Pick type C disease.
Ulatowski L, Parker R, Davidson C, Yanjanin N, Kelley TJ, Corey D, Atkinson J, Porter F, Arai H, Walkley SU, Manor D. Ulatowski L, et al. J Lipid Res. 2011 Jul;52(7):1400-10. doi: 10.1194/jlr.M015560. Epub 2011 May 5. J Lipid Res. 2011. PMID: 21550990 Free PMC article.
211 results