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Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA. Vincent LM, et al. Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2. Mol Genet Metab. 2009. PMID: 19398212 Free PMC article.
Hermansky-Pudlak syndrome in two African-American brothers.
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA. Merideth MA, et al. Am J Med Genet A. 2009 May;149A(5):987-92. doi: 10.1002/ajmg.a.32757. Am J Med Genet A. 2009. PMID: 19334085 Free PMC article.
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA. Huizing M, et al. J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20. J Med Genet. 2009. PMID: 19843503 Free PMC article.
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.
Gil-Krzewska A, Murakami Y, Peruzzi G, O'Brien KJ, Merideth MA, Cullinane AR, Gahl WA, Coligan JE, Gochuico BR, Krzewski K. Gil-Krzewska A, et al. Br J Haematol. 2017 Jan;176(1):118-123. doi: 10.1111/bjh.14390. Epub 2016 Oct 21. Br J Haematol. 2017. PMID: 27766632 Free PMC article.
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Stephen J, et al. PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017. PLoS One. 2017. PMID: 28296950 Free PMC article.
The clinical spectrum of Erdheim-Chester disease: an observational cohort study.
Estrada-Veras JI, O'Brien KJ, Boyd LC, Dave RH, Durham B, Xi L, Malayeri AA, Chen MY, Gardner PJ, Alvarado-Enriquez JR, Shah N, Abdel-Wahab O, Gochuico BR, Raffeld M, Jaffe ES, Gahl WA. Estrada-Veras JI, et al. Blood Adv. 2017 Feb 14;1(6):357-366. doi: 10.1182/bloodadvances.2016001784. Blood Adv. 2017. PMID: 28553668 Free PMC article.
The curse of idiopathic.
O'Brien KJ, Gahl WA, Gochuico BR. O'Brien KJ, et al. J Inherit Metab Dis. 2018 Jan;41(1):3-4. doi: 10.1007/s10545-017-0101-z. Epub 2017 Oct 27. J Inherit Metab Dis. 2018. PMID: 29080035 Free PMC article. No abstract available.
66 results