Porter FD - Search Results

1

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger EA, Austin CP, Porter FD, Vite CH, Ory DS. Walkley SU, et al. Among authors: porter fd. Orphanet J Rare Dis. 2016 Dec 1;11(1):161. doi: 10.1186/s13023-016-0540-x. Orphanet J Rare Dis. 2016. PMID: 27903269 Free PMC article.

2

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.

Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Yanjanin NM, et al. Among authors: porter fd. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19415691 Free PMC article.

3

Oxidative stress in Niemann-Pick disease, type C.

Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD. Fu R, et al. Among authors: porter fd. Mol Genet Metab. 2010 Oct-Nov;101(2-3):214-8. doi: 10.1016/j.ymgme.2010.06.018. Epub 2010 Jul 27. Mol Genet Metab. 2010. PMID: 20667755 Free PMC article.

4

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS. Porter FD, et al. Sci Transl Med. 2010 Nov 3;2(56):56ra81. doi: 10.1126/scitranslmed.3001417. Sci Transl Med. 2010. PMID: 21048217 Free PMC article.

5

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS. Jiang X, et al. Among authors: porter fd. J Lipid Res. 2011 Jul;52(7):1435-45. doi: 10.1194/jlr.D015735. Epub 2011 Apr 24. J Lipid Res. 2011. PMID: 21518695 Free PMC article.

6

Altered vitamin E status in Niemann-Pick type C disease.

Ulatowski L, Parker R, Davidson C, Yanjanin N, Kelley TJ, Corey D, Atkinson J, Porter F, Arai H, Walkley SU, Manor D. Ulatowski L, et al. J Lipid Res. 2011 Jul;52(7):1400-10. doi: 10.1194/jlr.M015560. Epub 2011 May 5. J Lipid Res. 2011. PMID: 21550990 Free PMC article.

7

Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.

Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM. Miao N, et al. Among authors: porter fd. J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378675 Free PMC article. Review.

8

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD. Cluzeau CV, et al. Among authors: porter fd. Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619379 Free PMC article.

9

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W. Xu M, et al. Among authors: porter fd. J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. J Biol Chem. 2012. PMID: 23035117 Free PMC article.

10

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Fu R, Wassif CA, Yanjanin NM, Watkins-Chow DE, Baxter LL, Incao A, Liscum L, Sidhu R, Firnkes S, Graham M, Ory DS, Porter FD, Pavan WJ. Fu R, et al. Among authors: porter fd. Hum Mol Genet. 2013 Sep 1;22(17):3508-23. doi: 10.1093/hmg/ddt206. Epub 2013 May 10. Hum Mol Genet. 2013. PMID: 23666527 Free PMC article. Clinical Trial.

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