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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.
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.
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA. Bianconi SE, et al. Among authors: porter fd. Am J Med Genet A. 2011 Nov;155A(11):2732-8. doi: 10.1002/ajmg.a.34271. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990131 Free PMC article.
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.
Cologna SM, Shieh C, Toth CL, Cougnoux A, Burkert KR, Bianconi SE, Wassif CA, Porter FD. Cologna SM, et al. Among authors: porter fd. Am J Med Genet A. 2016 Aug;170(8):2060-2068. doi: 10.1002/ajmg.a.37720. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27148958 Free PMC article.
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. Wassif CA, et al. Among authors: porter fd. Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513191 Free PMC article. Clinical Trial.
Vitamin D levels in Smith-Lemli-Opitz syndrome.
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD. Movassaghi M, et al. Among authors: porter fd. Am J Med Genet A. 2017 Oct;173(10):2577-2583. doi: 10.1002/ajmg.a.38361. Epub 2017 Aug 10. Am J Med Genet A. 2017. PMID: 28796426 Free PMC article.
211 results