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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.
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 Free PMC article.
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
Solomon BI, Muñoz AM, Sinaii N, Mohamed H, Farhat NM, Alexander D, Do AD, Porter FD. Solomon BI, et al. Among authors: porter fd. Orphanet J Rare Dis. 2024 Jun 11;19(1):231. doi: 10.1186/s13023-024-03241-7. Orphanet J Rare Dis. 2024. PMID: 38863022 Free PMC article.
Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Selvaraman A, Rahhal S, Bianconi S, Furnary T, Porter FD. Selvaraman A, et al. Among authors: porter fd. Am J Med Genet A. 2025 Feb;197(2):e63875. doi: 10.1002/ajmg.a.63875. Epub 2024 Sep 13. Am J Med Genet A. 2025. PMID: 39271956
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1.
Mishra S, Kell P, Scherrer D, Dietzen DJ, Vite CH, Berry-Kravis E, Davidson C, Cologna SM, Porter FD, Ory DS, Jiang X. Mishra S, et al. Among authors: porter fd. J Lipid Res. 2024 Aug;65(8):100600. doi: 10.1016/j.jlr.2024.100600. Epub 2024 Jul 22. J Lipid Res. 2024. PMID: 39048052 Free PMC article.
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice.
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ. Mylvara AV, et al. Among authors: porter fd. bioRxiv [Preprint]. 2024 Jun 8:2024.06.07.597901. doi: 10.1101/2024.06.07.597901. bioRxiv. 2024. PMID: 38895471 Free PMC article. Preprint.
213 results