Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2002 4
2003 5
2004 3
2005 4
2006 5
2007 3
2008 4
2009 2
2010 9
2011 5
2012 10
2013 8
2014 12
2015 11
2016 13
2017 12
2018 8
2019 13
2020 20
2021 16
2022 13
2023 14
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

172 results

Results by year

Filters applied: . Clear all
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.
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.
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.
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.
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.
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: porter fd. 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.
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.
172 results