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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.
Dang Do AN, Sleat DE, Campbell K, Johnson NL, Zheng H, Wassif CA, Dale RK, Porter FD. Dang Do AN, et al. Among authors: porter fd. J Proteome Res. 2023 Jul 7;22(7):2493-2508. doi: 10.1021/acs.jproteome.3c00199. Epub 2023 Jun 20. J Proteome Res. 2023. PMID: 37338096
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. Dang Do AN, et al. Among authors: porter fd. J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36719165 Free PMC article.
Brain proton MR spectroscopy measurements in CLN3 disease.
Dang Do AN, Baker EH, Farmer CA, Soldatos AG, Thurm AE, Porter FD. Dang Do AN, et al. Among authors: porter fd. Mol Genet Metab. 2023 May;139(1):107584. doi: 10.1016/j.ymgme.2023.107584. Epub 2023 Apr 15. Mol Genet Metab. 2023. PMID: 37086568 Free PMC article.
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Among authors: porter fd. Mol Genet Metab Rep. 2023 Oct 9;37:101013. doi: 10.1016/j.ymgmr.2023.101013. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053934 Free PMC article.
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Among authors: porter fd. Mol Genet Metab Rep. 2023 Aug 21;37:101001. doi: 10.1016/j.ymgmr.2023.101001. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662495 Free PMC article.
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD. Cawley NX, et al. Among authors: porter fd. Mol Genet Metab. 2023 Nov;140(3):107656. doi: 10.1016/j.ymgme.2023.107656. Epub 2023 Jul 23. Mol Genet Metab. 2023. PMID: 37517328
207 results