{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T15:00:39Z","timestamp":1773673239587,"version":"3.50.1"},"reference-count":22,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2004,8]]},"DOI":"10.1016\/j.ophtha.2003.12.058","type":"journal-article","created":{"date-parts":[[2004,8,5]],"date-time":"2004-08-05T07:00:10Z","timestamp":1091689210000},"page":"1599-1603","source":"Crossref","is-referenced-by-count":23,"title":["Milder ocular findings in Hermansky\u2013Pudlak syndrome type 3 compared with Hermansky\u2013Pudlak syndrome type 1"],"prefix":"10.1016","volume":"111","author":[{"given":"Ekaterini T","family":"Tsilou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin I","family":"Rubin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George F","family":"Reed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lessie","family":"McCain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel I","family":"Kaiser-Kupfer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2003.12.058_BIB1","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","volume":"14","author":"Hermansky","year":"1959","journal-title":"Blood"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB2","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1034\/j.1600-0854.2000.011103.x","article-title":"Hermansky-Pudlak syndrome and related disorders of organelle formation","volume":"1","author":"Huizing","year":"2000","journal-title":"Traffic"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB3","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1055\/s-0037-1616221","article-title":"Hermansky-Pudlak syndrome and Chediak-Higashi syndrome","volume":"86","author":"Huizing","year":"2001","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1034\/j.1600-0749.2002.02074.x","article-title":"Hermansky-Pudlak syndrome","volume":"15","author":"Huizing","year":"2002","journal-title":"Pigment Cell Res"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB5","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1056\/NEJM199804303381803","article-title":"Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)","volume":"338","author":"Gahl","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB6","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/mgme.1998.2729","article-title":"Hermansky-Pudlak syndrome","volume":"65","author":"Shotelersuk","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB7","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng1196-300","article-title":"Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles","volume":"14","author":"Oh","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB8","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/ng835","article-title":"Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene","volume":"30","author":"Suzuki","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB9","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1086\/301757","article-title":"Mutation analysis of patients with Hermansky-Pudlak syndrome","volume":"62","author":"Oh","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB10","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/mgme.1998.2679","article-title":"Three new mutations in a gene causing Hermansky-Pudlak syndrome","volume":"64","author":"Shotelersuk","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB11","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/humu.9097","article-title":"Hermansky-Pudlak syndrome type 1","volume":"20","author":"Hermos","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB12","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1097-2765(00)80170-7","article-title":"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor","volume":"3","author":"Dell'Angelica","year":"1999","journal-title":"Mol Cell"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB13","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0002-9343(99)00436-2","article-title":"A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation","volume":"108","author":"Shotelersuk","year":"2000","journal-title":"Am J Med"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB14","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1203\/00006450-200202000-00006","article-title":"Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2","volume":"51","author":"Huizing","year":"2002","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB15","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico","volume":"28","author":"Anikster","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB16","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1086\/324168","article-title":"Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency","volume":"69","author":"Huizing","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB17","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","article-title":"Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics","volume":"113","author":"Anderson","year":"2003","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB18","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng1087","article-title":"Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6","volume":"33","author":"Zhang","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB19","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1600-0749.1998.tb00713.x","article-title":"Mouse models of Hermansky Pudlak syndrome","volume":"11","author":"Swank","year":"1998","journal-title":"Pigment Cell Res"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB20","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0161-6420(88)33152-0","article-title":"Hermansky-Pudlak syndrome. Ophthalmic findings","volume":"95","author":"Summers","year":"1988","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB21","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/S0161-6420(99)00150-5","article-title":"Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism","volume":"107","author":"Iwata","year":"2000","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2003.12.058_BIB22","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajh.2830260403","article-title":"Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome","volume":"26","author":"Witkop","year":"1987","journal-title":"Am J Hematol"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642004003410?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642004003410?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T22:54:40Z","timestamp":1585868080000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642004003410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["S0161642004003410"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2003.12.058","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2004,8]]}}}