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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.
Neurological manifestations of Erdheim-Chester Disease.
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH. Boyd LC, et al. Ann Clin Transl Neurol. 2020 Apr;7(4):497-506. doi: 10.1002/acn3.51014. Epub 2020 Mar 29. Ann Clin Transl Neurol. 2020. PMID: 32227455 Free PMC article.
Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Merideth MA, et al. Platelets. 2020 May 18;31(4):544-547. doi: 10.1080/09537104.2019.1663810. Epub 2019 Sep 5. Platelets. 2020. PMID: 32436471 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.
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.
El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR. El-Chemaly S, et al. PLoS One. 2018 Mar 16;13(3):e0194193. doi: 10.1371/journal.pone.0194193. eCollection 2018. PLoS One. 2018. PMID: 29547626 Free PMC article. Clinical Trial.
2,966 results