{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T11:05:14Z","timestamp":1759057514841,"version":"3.41.2"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T00:00:00Z","timestamp":1677456000000},"content-version":"vor","delay-in-days":26,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder inherited in an autosomal recessive manner. Its prevalence is 1 in 500\u2009000 to 1\u2009000\u2009000 people worldwide. The cause of this disorder is genetic mutations that lead to defective organelles of lysosomes. In this report, a 49-year-old man is introduced who was referred to the medical center with ocular albinism and recently exacerbated shortness of breath. Imaging showed peripheral reticular opacities, ground-glass opacities of the lungs with subpleural sparing in some regions, and thickening of bronchovascular bundles, which were all in favor of non-specific interstitial pneumonia. This imaging pattern is an unusual finding in a patient with HPS.<\/jats:p>","DOI":"10.1093\/omcr\/omad001","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T13:25:34Z","timestamp":1677504334000},"source":"Crossref","is-referenced-by-count":2,"title":["A case of Hermansky-Pudlak with dyspnea"],"prefix":"10.1093","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9237-9983","authenticated-orcid":false,"given":"Ali Hossein Samadi","family":"Takaldani","sequence":"first","affiliation":[{"name":"Ardabil University of Medical Sciences Department of Internal Medicine (Pulmonology Division), School of Medicine, , Ardabil, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4882-8803","authenticated-orcid":false,"given":"Nima","family":"Javanshir","sequence":"additional","affiliation":[{"name":"Ardabil University of Medical Sciences Faculty of Medicine, School of Medicine, , Ardabil, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7833-978X","authenticated-orcid":false,"given":"Maryam","family":"Salimi","sequence":"additional","affiliation":[{"name":"Ardabil University of Medical Sciences Department of Internal Medicine, School of Medicine, , Ardabil, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8293-9139","authenticated-orcid":false,"given":"Mohammad","family":"Negaresh","sequence":"additional","affiliation":[{"name":"Ardabil University of Medical Sciences Department of Internal Medicine, School of Medicine, , Ardabil, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,2,27]]},"reference":[{"key":"2023022713251335700_","doi-asserted-by":"crossref","first-page":"245","DOI":"10.3109\/13816819009020986","article-title":"Hermansky-Pudlak syndrome (HPS): an epidemiologic 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