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3,052 results

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Page 1
Aldosterone revisited.
Kleta R, O'Brien K. Kleta R, et al. N Engl J Med. 2004 Nov 11;351(20):2131-3; author reply 2131-3. N Engl J Med. 2004. PMID: 15543661 No abstract available.
Use of nitisinone in patients with alkaptonuria.
Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA. Suwannarat P, et al. Metabolism. 2005 Jun;54(6):719-28. doi: 10.1016/j.metabol.2004.12.017. Metabolism. 2005. PMID: 15931605
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.
Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Rouhani FN, et al. Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. doi: 10.1164/rccm.200901-0023OC. Epub 2009 Sep 3. Am J Respir Crit Care Med. 2009. PMID: 19729668 Free PMC article.
Novel mutations in the HPS1 gene among Puerto Rican patients.
Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Carmona-Rivera C, et al. Clin Genet. 2011 Jun;79(6):561-7. doi: 10.1111/j.1399-0004.2010.01491.x. Clin Genet. 2011. PMID: 20662851
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA. O'Brien K, et al. Mol Genet Metab. 2011 Jun;103(2):128-34. doi: 10.1016/j.ymgme.2011.02.003. Epub 2011 Mar 21. Mol Genet Metab. 2011. PMID: 21420888 Free PMC article. Clinical Trial.
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. Introne WJ, et al. Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6. Mol Genet Metab. 2011. PMID: 21620748 Free PMC article. Clinical Trial.
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program; Markello TC, Gunay-Aygun M, Huizing M, Gahl WA. Cullinane AR, et al. J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16. J Invest Dermatol. 2011. PMID: 21677667 Free PMC article.
3,052 results