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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.
Chen OCW, Siebel S, Colaco A, Nicoli ER, Platt N, Shepherd D, Newman S, Armitage AE, Farhat NY, Seligmann G, Smith C, Smith DA, Abdul-Sada A, Jeyakumar M, Drakesmith H, Porter FD, Platt FM. Chen OCW, et al. Among authors: farhat ny. Wellcome Open Res. 2023 Apr 3;7:267. doi: 10.12688/wellcomeopenres.17261.2. eCollection 2022. Wellcome Open Res. 2023. PMID: 37065726 Free PMC article.
Defective platelet function in Niemann-Pick disease type C1.
Chen OCW, Colaco A, Davis LC, Kiskin FN, Farhat NY, Speak AO, Smith DA, Morris L, Eden E, Tynan P, Churchill GC, Galione A, Porter FD, Platt FM. Chen OCW, et al. Among authors: farhat ny. JIMD Rep. 2020 Sep 12;56(1):46-57. doi: 10.1002/jmd2.12148. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204596 Free PMC article.
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA; NISC Comparative Sequencing Program; Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ. Rodriguez-Gil JL, et al. Among authors: farhat ny. Hum Mol Genet. 2021 Nov 30;30(24):2456-2468. doi: 10.1093/hmg/ddab194. Hum Mol Genet. 2021. PMID: 34296265 Free PMC article.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. Sidhu R, et al. Among authors: farhat ny. Mol Genet Metab. 2020 Apr;129(4):292-302. doi: 10.1016/j.ymgme.2020.01.007. Epub 2020 Jan 22. Mol Genet Metab. 2020. PMID: 32033912 Free PMC article.
21 results