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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 2
1984 1
1988 1
1989 1
1995 1
1997 3
1998 1
1999 3
2000 3
2001 10
2002 4
2003 5
2004 3
2005 6
2006 5
2007 3
2008 4
2009 2
2010 11
2011 6
2012 10
2013 9
2014 15
2015 12
2016 14
2017 12
2018 9
2019 13
2020 20
2021 16
2022 13
2023 11

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203 results

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Page 1
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH, Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter FD, Ori A, Sabatini DM, Abu-Remaileh M. Laqtom NN, et al. Among authors: porter fd. Nature. 2022 Sep;609(7929):1005-1011. doi: 10.1038/s41586-022-05221-y. Epub 2022 Sep 21. Nature. 2022. PMID: 36131016 Free PMC article.
Smith-Lemli-Opitz syndrome.
Martin A, Koenig K, Scahill L, Tierney E, Porter FD, Nwokoro NA. Martin A, et al. Among authors: porter fd. J Am Acad Child Adolesc Psychiatry. 2001 May;40(5):506-7. doi: 10.1097/00004583-200105000-00008. J Am Acad Child Adolesc Psychiatry. 2001. PMID: 11349693 No abstract available.
Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Bianconi S, Livinski A, Fu YP, Remaley AT, Porter FD. Ballout RA, et al. Among authors: porter fd. Cochrane Database Syst Rev. 2020;2020(1):CD013521. doi: 10.1002/14651858.cd013521. Cochrane Database Syst Rev. 2020. PMID: 32132878 Free PMC article. Updated.
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC. Zalewski CK, et al. Among authors: porter fd. Am J Med Genet A. 2021 Apr;185(4):1131-1141. doi: 10.1002/ajmg.a.62087. Epub 2021 Feb 2. Am J Med Genet A. 2021. PMID: 33529473 Free PMC article.
Oxidative phosphorylation in creatine transporter deficiency.
Li S, Bianconi S, van der Veen JW, Dang Do A, Stolinski J, Cecil KM, Hannah-Shmouni F, Porter FD, Shen J. Li S, et al. Among authors: porter fd. NMR Biomed. 2021 Jan;34(1):e4419. doi: 10.1002/nbm.4419. Epub 2020 Sep 29. NMR Biomed. 2021. PMID: 32990357 Free PMC article.
Early Indicators of Creatine Transporter Deficiency.
Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A. Miller JS, et al. Among authors: porter fd. J Pediatr. 2019 Mar;206:283-285. doi: 10.1016/j.jpeds.2018.11.008. Epub 2018 Dec 20. J Pediatr. 2019. PMID: 30579583 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
203 results