{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:05:54Z","timestamp":1792807554485,"version":"4.5.0"},"reference-count":118,"publisher":"European Respiratory Society (ERS)","issue":"159","license":[{"start":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:00:00Z","timestamp":1612224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir Rev"],"accepted":{"date-parts":[[2020,7,6]]},"published-print":{"date-parts":[[2021,3,31]]},"abstract":"<jats:p>Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky\u2013Pudlak syndrome (HPS), a rare autosomal recessive disorder characterised by abnormal biogenesis of lysosome-related organelles, manifests with oculocutaneous albinism and excessive bleeding of variable severity. Pulmonary fibrosis is highly prevalent in three out of 10 genetic types of HPS (HPS-1, HPS-2 and HPS-4). Thus, genotyping of individuals with HPS is clinically relevant. HPS-1 tends to affect Puerto Rican individuals due to a genetic founder effect. HPS pulmonary fibrosis shares some clinical features with idiopathic pulmonary fibrosis (IPF), including dyspnoea, cough, restrictive lung physiology and computed tomography (CT) findings of fibrosis. In contrast to IPF, HPS pulmonary fibrosis generally affects children (HPS-2) or middle-aged adults (HPS-1 or HPS-4) and may be associated with ground-glass opacification in CT scans. Histopathology of HPS pulmonary fibrosis, and not IPF, shows vacuolated hyperplastic type II cells with enlarged lamellar bodies and alveolar macrophages with lipofuscin-like deposits. Antifibrotic drugs approved as treatment for IPF are not approved for HPS pulmonary fibrosis. However, lung transplantation has been performed in patients with severe HPS pulmonary fibrosis. HPS pulmonary fibrosis serves as a model for studying fibrotic lung disease and fibrosis in general.<\/jats:p>","DOI":"10.1183\/16000617.0193-2020","type":"journal-article","created":{"date-parts":[[2021,2,3]],"date-time":"2021-02-03T08:49:22Z","timestamp":1612342162000},"page":"200193","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":51,"title":["Hermansky\u2013Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease"],"prefix":"10.1183","volume":"30","author":[{"given":"Tadafumi","family":"Yokoyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernadette R.","family":"Gochuico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2021,2,2]]},"reference":[{"key":"2024102403514170000_30.159.200193.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1705751"},{"key":"2024102403514170000_30.159.200193.2","doi-asserted-by":"crossref","first-page":"17074","DOI":"10.1038\/nrdp.2017.74","article-title":"Idiopathic pulmonary fibrosis","volume":"3","author":"Martinez","year":"2017","journal-title":"Nat Rev Dis Primers"},{"key":"2024102403514170000_30.159.200193.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)30866-8"},{"key":"2024102403514170000_30.159.200193.4","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110551"},{"key":"2024102403514170000_30.159.200193.5","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200810-1615OC"},{"key":"2024102403514170000_30.159.200193.6","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201202-0282PP"},{"key":"2024102403514170000_30.159.200193.7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI93560"},{"key":"2024102403514170000_30.159.200193.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.11.021"},{"key":"2024102403514170000_30.159.200193.9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.trsl.2018.05.005","article-title":"The mitochondria in lung fibrosis: friend or foe?","volume":"202","author":"Malsin","year":"2018","journal-title":"Transl Res"},{"key":"2024102403514170000_30.159.200193.10","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201703-207AW"},{"key":"2024102403514170000_30.159.200193.11","doi-asserted-by":"publisher","DOI":"10.2332\/allergolint.O-06-449"},{"key":"2024102403514170000_30.159.200193.12","doi-asserted-by":"crossref","first-page":"3709","DOI":"10.1016\/j.celrep.2019.05.077","article-title":"Modeling of fibrotic lung disease using 3D organoids derived from human pluripotent stem cells","volume":"27","author":"Strikoudis","year":"2019","journal-title":"Cell Rep"},{"key":"2024102403514170000_30.159.200193.13","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0053-2019"},{"key":"2024102403514170000_30.159.200193.14","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1513\/AnnalsATS.201808-508CME","article-title":"Telomeres in interstitial lung disease: the short and the long of it","volume":"16","author":"Courtwright","year":"2019","journal-title":"Ann Am Thorac Soc"},{"key":"2024102403514170000_30.159.200193.15","unstructured":"Savage SA . Dyskeratosis congenita. In: Adam MP , Ardinger HH , Pagon RA , et al. , eds. GeneReviews [Internet]. Seattle, University of Washington, 2019."},{"key":"2024102403514170000_30.159.200193.16","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381803"},{"key":"2024102403514170000_30.159.200193.17","unstructured":"Huizing M , Malicdan MCV , Gochuico BR , et al. Hermansky\u2013Pudlak syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al. , eds. GeneReviews [Internet]. Seattle, University of Washington, 2017."},{"key":"2024102403514170000_30.159.200193.18","doi-asserted-by":"publisher","DOI":"10.1378\/chest.117.1.129"},{"key":"2024102403514170000_30.159.200193.19","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.179.4.1790887"},{"key":"2024102403514170000_30.159.200193.20","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2011.00198"},{"key":"2024102403514170000_30.159.200193.21","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","article-title":"Hermansky\u2013Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics","volume":"113","author":"Anderson","year":"2003","journal-title":"Hum Genet"},{"key":"2024102403514170000_30.159.200193.22","first-page":"1","article-title":"Molecular genetics of Hermansky\u2013Pudlak syndrome","volume":"2017","author":"Huizing","year":"2017","journal-title":"eLS"},{"key":"2024102403514170000_30.159.200193.23","doi-asserted-by":"publisher","DOI":"10.1016\/S1542-3565(05)00858-X"},{"key":"2024102403514170000_30.159.200193.24","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1182\/blood.V14.2.162.162","article-title":"Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies","volume":"14","author":"Hermansky","year":"1959","journal-title":"Blood"},{"key":"2024102403514170000_30.159.200193.25","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"2024102403514170000_30.159.200193.26","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"2024102403514170000_30.159.200193.27","doi-asserted-by":"publisher","DOI":"10.1038\/ng994"},{"key":"2024102403514170000_30.159.200193.28","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"},{"key":"2024102403514170000_30.159.200193.29","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065961"},{"key":"2024102403514170000_30.159.200193.30","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"2024102403514170000_30.159.200193.31","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"2024102403514170000_30.159.200193.32","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-01-404350"},{"key":"2024102403514170000_30.159.200193.33","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-09-671636"},{"key":"2024102403514170000_30.159.200193.34","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky\u2013Pudlak syndrome: mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum Mutat"},{"key":"2024102403514170000_30.159.200193.35","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13023-018-0780-z","article-title":"Hermansky\u2013Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood","volume":"13","author":"Hengst","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403514170000_30.159.200193.36","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-300"},{"key":"2024102403514170000_30.159.200193.37","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301294200"},{"key":"2024102403514170000_30.159.200193.38","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.bbamcr.2012.10.019","article-title":"A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3)","volume":"1833","author":"Carmona-Rivera","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"2024102403514170000_30.159.200193.39","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2012.09.020"},{"key":"2024102403514170000_30.159.200193.40","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA119.007345"},{"key":"2024102403514170000_30.159.200193.41","first-page":"333","article-title":"Albinism and Hermansky\u2013Pudlak syndrome in Puerto Rico","volume":"82","author":"Witkop","year":"1990","journal-title":"Bol Asoc Med P R"},{"key":"2024102403514170000_30.159.200193.42","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23884.x"},{"key":"2024102403514170000_30.159.200193.43","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1159\/000247258","article-title":"Hermansky\u2013Pudlak syndrome in a Swiss population","volume":"187","author":"Schallreuter","year":"1993","journal-title":"Dermatology"},{"key":"2024102403514170000_30.159.200193.44","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1002\/ajmg.a.32757","article-title":"Hermansky\u2013Pudlak syndrome in two African-American brothers","volume":"149A","author":"Merideth","year":"2009","journal-title":"Am J Med Genet A"},{"key":"2024102403514170000_30.159.200193.45","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.228"},{"key":"2024102403514170000_30.159.200193.46","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.03.011"},{"key":"2024102403514170000_30.159.200193.47","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1111\/pcmr.12534","article-title":"NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky\u2013Pudlak syndrome patients","volume":"29","author":"Wei","year":"2016","journal-title":"Pigment Cell Melanoma Res"},{"key":"2024102403514170000_30.159.200193.48","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/s13023-019-1023-7","article-title":"Hermansky\u2013Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising","volume":"14","author":"Power","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403514170000_30.159.200193.49","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200202000-00006"},{"key":"2024102403514170000_30.159.200193.50","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/bjh.14390","article-title":"Natural killer cell activity and dysfunction in Hermansky\u2013Pudlak syndrome","volume":"176","author":"Gil-Krzewska","year":"2017","journal-title":"Br J Haematol"},{"key":"2024102403514170000_30.159.200193.51","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/pcmr.12748","article-title":"Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky\u2013Pudlak syndrome","volume":"32","author":"Wei","year":"2019","journal-title":"Pigment Cell Melanoma Res"},{"key":"2024102403514170000_30.159.200193.52","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164303"},{"key":"2024102403514170000_30.159.200193.53","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-835674"},{"key":"2024102403514170000_30.159.200193.54","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830260403"},{"key":"2024102403514170000_30.159.200193.55","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-4003"},{"key":"2024102403514170000_30.159.200193.56","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00024.2003"},{"key":"2024102403514170000_30.159.200193.57","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-010-0724-8"},{"key":"2024102403514170000_30.159.200193.58","doi-asserted-by":"publisher","DOI":"10.1007\/s004280000241"},{"key":"2024102403514170000_30.159.200193.59","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.176.7.4361"},{"key":"2024102403514170000_30.159.200193.60","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201011-1882OC"},{"key":"2024102403514170000_30.159.200193.61","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200901-0023OC"},{"key":"2024102403514170000_30.159.200193.62","doi-asserted-by":"crossref","first-page":"e0173682","DOI":"10.1371\/journal.pone.0173682","article-title":"Cellular and molecular defects in a patient with Hermansky\u2013Pudlak syndrome type 5","volume":"12","author":"Stephen","year":"2017","journal-title":"PLoS One"},{"key":"2024102403514170000_30.159.200193.63","doi-asserted-by":"crossref","first-page":"e0159177","DOI":"10.1371\/journal.pone.0159177","article-title":"Immunophenotypic and ultrastructural analysis of mast cells in Hermansky\u2013Pudlak syndrome type-1: a possible connection to pulmonary fibrosis","volume":"11","author":"Kirshenbaum","year":"2016","journal-title":"PLoS One"},{"key":"2024102403514170000_30.159.200193.64","doi-asserted-by":"crossref","first-page":"76","DOI":"10.3389\/fimmu.2018.00076","article-title":"The immunome in two inherited forms of pulmonary fibrosis","volume":"9","author":"El-Chemaly","year":"2018","journal-title":"Front Immunol"},{"key":"2024102403514170000_30.159.200193.65","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1165\/rcmb.2017-0324MA","article-title":"Gene-edited MLE-15 cells as a model for the Hermansky\u2013Pudlak syndromes","volume":"58","author":"Kook","year":"2018","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2024102403514170000_30.159.200193.66","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.stemcr.2019.01.014","article-title":"In vitro disease modeling of Hermansky\u2013Pudlak syndrome type 2 using human induced pluripotent stem cell-derived alveolar organoids","volume":"12","author":"Korogi","year":"2019","journal-title":"Stem Cell Reports"},{"key":"2024102403514170000_30.159.200193.67","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201207-1206OC"},{"key":"2024102403514170000_30.159.200193.68","doi-asserted-by":"crossref","first-page":"e88947","DOI":"10.1172\/jci.insight.88947","article-title":"Epithelial\u2013macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky\u2013Pudlak syndrome","volume":"1","author":"Young","year":"2016","journal-title":"JCI Insight"},{"key":"2024102403514170000_30.159.200193.69","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200909-1414OC"},{"key":"2024102403514170000_30.159.200193.70","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00213.2015"},{"key":"2024102403514170000_30.159.200193.71","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2004-0293OC"},{"key":"2024102403514170000_30.159.200193.72","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.720201"},{"key":"2024102403514170000_30.159.200193.73","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2013-0025OC"},{"key":"2024102403514170000_30.159.200193.74","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1701442"},{"key":"2024102403514170000_30.159.200193.75","doi-asserted-by":"publisher","DOI":"10.1172\/JCI79792"},{"key":"2024102403514170000_30.159.200193.76","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200215518"},{"key":"2024102403514170000_30.159.200193.77","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)62351-6"},{"key":"2024102403514170000_30.159.200193.78","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1165\/rcmb.2019-0092OC","article-title":"Impaired myofibroblast dedifferentiation contributes to non-resolving fibrosis in aging","volume":"62","author":"Kato","year":"2020","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2024102403514170000_30.159.200193.79","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1164\/rccm.201407-1287OC","article-title":"Circulating fibrocytes as biomarker of prognosis in Hermansky\u2013Pudlak syndrome","volume":"190","author":"Trimble","year":"2014","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102403514170000_30.159.200193.80","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13023-019-1143-0","article-title":"Matrix metalloproteinase activity in the lung is increased in Hermansky\u2013Pudlak syndrome","volume":"14","author":"Summer","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2024102403514170000_30.159.200193.81","first-page":"1839","article-title":"Pulmonary fibrosis in Hermansky\u2013Pudlak syndrome","volume":"13","author":"Vicary","year":"2016","journal-title":"Ann Am Thorac Soc"},{"key":"2024102403514170000_30.159.200193.82","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1055\/s-0040-1708088","article-title":"Hermansky\u2013Pudlak syndrome","volume":"41","author":"De Jesus Rojas","year":"2020","journal-title":"Semin Respir Crit Care Med"},{"key":"2024102403514170000_30.159.200193.83","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0077-2018"},{"key":"2024102403514170000_30.159.200193.84","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201807-1255ST"},{"key":"2024102403514170000_30.159.200193.85","doi-asserted-by":"publisher","DOI":"10.1183\/09059180.00002512"},{"key":"2024102403514170000_30.159.200193.86","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201006-0894CI"},{"key":"2024102403514170000_30.159.200193.87","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.003"},{"key":"2024102403514170000_30.159.200193.88","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00044-6"},{"key":"2024102403514170000_30.159.200193.89","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/rcr2.141","article-title":"Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky\u2013Pudlak syndrome","volume":"4","author":"Sugino","year":"2016","journal-title":"Respirol Case Rep"},{"key":"2024102403514170000_30.159.200193.90","doi-asserted-by":"crossref","first-page":"e143","DOI":"10.1016\/j.chest.2018.05.032","article-title":"A 40-year-old man with albinism and progressive dyspnea","volume":"154","author":"Thompson","year":"2018","journal-title":"Chest"},{"key":"2024102403514170000_30.159.200193.91","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.157.4.9707039"},{"key":"2024102403514170000_30.159.200193.92","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200212000-00004"},{"key":"2024102403514170000_30.159.200193.93","doi-asserted-by":"publisher","DOI":"10.1183\/09059180.00004914"},{"key":"2024102403514170000_30.159.200193.94","doi-asserted-by":"crossref","first-page":"e0194193","DOI":"10.1371\/journal.pone.0194193","article-title":"Clinical barriers to lung transplantation in Hermansky\u2013Pudlak syndrome pulmonary fibrosis","volume":"13","author":"El-Chemaly","year":"2018","journal-title":"PLoS One"},{"key":"2024102403514170000_30.159.200193.95","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2004.11.015"},{"key":"2024102403514170000_30.159.200193.96","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc0905544"},{"key":"2024102403514170000_30.159.200193.97","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1007\/s11748-016-0726-0","article-title":"Successful use of veno-venous extracorporeal membrane oxygenation as a bridge to lung T transplantation in a patient with pulmonary fibrosis","volume":"65","author":"Umei","year":"2017","journal-title":"Gen Thorac Cardiovasc Surg"},{"key":"2024102403514170000_30.159.200193.98","doi-asserted-by":"crossref","first-page":"95","DOI":"10.4266\/acc.2018.00402","article-title":"Extracorporeal membrane oxygenation bridge to lung transplantation in a patient with Hermansky\u2013Pudlak syndrome and progressive pulmonary fibrosis","volume":"34","author":"Sim","year":"2019","journal-title":"Acute Crit Care"},{"key":"2024102403514170000_30.159.200193.99","first-page":"38","article-title":"Hermansky\u2013Pudlak syndrome type 4 with interstitial pneumonia","volume":"9","author":"Sakata","year":"2013","journal-title":"Respir Med Case Rep"},{"key":"2024102403514170000_30.159.200193.100","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2016.08.009","article-title":"Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism","volume":"119","author":"O'Brien","year":"2016","journal-title":"Mol Genet Metab"},{"key":"2024102403514170000_30.159.200193.101","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.1002\/ajmg.a.40514","article-title":"Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant","volume":"176","author":"Han","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2024102403514170000_30.159.200193.102","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.012"},{"key":"2024102403514170000_30.159.200193.103","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1080\/09537104.2018.1476682","article-title":"Diagnostic laboratory standardization and validation of platelet transmission electron microscopy","volume":"29","author":"Chen","year":"2018","journal-title":"Platelets"},{"key":"2024102403514170000_30.159.200193.104","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.135.7.774"},{"key":"2024102403514170000_30.159.200193.105","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)60405-4"},{"key":"2024102403514170000_30.159.200193.106","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1402582"},{"key":"2024102403514170000_30.159.200193.107","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1186\/s12890-018-0736-z","article-title":"Pirfenidone improves survival in IPF: results from a real-life study","volume":"18","author":"Margaritopoulos","year":"2018","journal-title":"BMC Pulm Med"},{"key":"2024102403514170000_30.159.200193.108","first-page":"367","article-title":"Effects of pirfenidone on transforming growth factor-\u03b2 gene expression at the transcriptional level in bleomycin hamster model of lung fibrosis","volume":"291","author":"Iyer","year":"1999","journal-title":"J Pharmacol Exp Ther"},{"key":"2024102403514170000_30.159.200193.109","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejps.2014.02.014"},{"key":"2024102403514170000_30.159.200193.110","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/s12931-019-1093-z","article-title":"Pirfenidone attenuates lung fibrotic fibroblast responses to transforming growth factor-\u03b21","volume":"20","author":"Jin","year":"2019","journal-title":"Respir Res"},{"key":"2024102403514170000_30.159.200193.111","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.ymgme.2018.07.012","article-title":"Prolonged treatment with open-label pirfenidone in Hermansky\u2013Pudlak syndrome pulmonary fibrosis","volume":"125","author":"O'Brien","year":"2018","journal-title":"Mol Genet Metab"},{"key":"2024102403514170000_30.159.200193.112","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1402584"},{"key":"2024102403514170000_30.159.200193.113","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1903076"},{"key":"2024102403514170000_30.159.200193.114","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1908681"},{"key":"2024102403514170000_30.159.200193.115","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/S2213-2600(20)30036-9","article-title":"Nintedanib in patients with progressive fibrosing interstitial lung diseases \u2013 subgroup analyses by interstitial lung disease diagnosis in the INBUILD trial: a randomised, double-blind, placebo-controlled, parallel-group trial","volume":"8","author":"Wells","year":"2020","journal-title":"Lancet Respir Med"},{"key":"2024102403514170000_30.159.200193.116","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00174914"},{"key":"2024102403514170000_30.159.200193.117","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ymgme.2014.11.006","article-title":"In vitro functional correction of Hermansky\u2013Pudlak syndrome type-1 by lentiviral-mediated gene transfer","volume":"114","author":"Ikawa","year":"2015","journal-title":"Mol Genet Metab"},{"key":"2024102403514170000_30.159.200193.118","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1076-8"}],"container-title":["European Respiratory Review"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/16000617.0193-2020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T05:02:49Z","timestamp":1740373369000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/16000617.0193-2020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,2]]},"references-count":118,"journal-issue":{"issue":"159","published-online":{"date-parts":[[2021,2,2]]},"published-print":{"date-parts":[[2021,3,31]]}},"alternative-id":["10.1183\/16000617.0193-2020"],"URL":"https:\/\/doi.org\/10.1183\/16000617.0193-2020","relation":{},"ISSN":["0905-9180","1600-0617"],"issn-type":[{"value":"0905-9180","type":"print"},{"value":"1600-0617","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,2]]}}}