{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:16:36Z","timestamp":1786119396925,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010]]},"DOI":"10.1097\/icb.0b013e3181a59db6","type":"journal-article","created":{"date-parts":[[2010,1,3]],"date-time":"2010-01-03T03:16:37Z","timestamp":1262488597000},"page":"34-36","source":"Crossref","is-referenced-by-count":14,"title":["RETINITIS PIGMENTOSA AND PUNCTATE CATARACTS IN MEVALONIC ACIDURIA"],"prefix":"10.1097","volume":"4","author":[{"given":"Shawn C.","family":"Wilker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gislin","family":"Dagnelie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morton F.","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20210126","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1056\/NEJM198606193142504","article-title":"Mevalonic aciduria: an inborn error of cholesterol and nonsterol isoprene biosynthesis.","volume":"314","author":"Hoffmann","year":"1986","journal-title":"N Engl J Med"},{"key":"R2-12-20210126","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1542\/peds.91.5.915","article-title":"Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.","volume":"91","author":"Hoffmann","year":"1993","journal-title":"Pediatrics"},{"key":"R3-12-20210126","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1542\/peds.111.2.258","article-title":"Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.","volume":"111","author":"Prietsch","year":"2003","journal-title":"Pediatrics"},{"key":"R4-12-20210126","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-1-13","article-title":"Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.","volume":"1","author":"Haas","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"R5-12-20210126","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1212\/01.WNL.0000115390.33405.F7","article-title":"Mevalonate kinase deficiency: evidence for a phenotypic continuum.","volume":"62","author":"Simon","year":"2004","journal-title":"Neurology"},{"key":"R6-12-20210126","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1007\/s10545-005-0178-7","article-title":"Retinitis pigmentosa in mevalonate kinase deficiency.","volume":"28","author":"Balgobind","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"R7-12-20210126","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1076\/ceyr.17.2.153.5599","article-title":"Probing cataractogenesis associated with mevalonic aciduria.","volume":"17","author":"Cenedella","year":"1998","journal-title":"Curr Eye Res"},{"key":"R8-12-20210126","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1001\/archopht.121.12.1738","article-title":"Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.","volume":"121","author":"Elias","year":"2003","journal-title":"Arch Ophthalmol"},{"key":"R9-12-20210126","doi-asserted-by":"crossref","first-page":"19656","DOI":"10.1074\/jbc.273.31.19656","article-title":"Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mPpgr).","volume":"273","author":"Yan","year":"1998","journal-title":"J Biol Chem"},{"key":"R10-12-20210126","doi-asserted-by":"crossref","first-page":"12630","DOI":"10.1073\/pnas.2134194100","article-title":"AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.","volume":"100","author":"Ramamurthy","year":"2003","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["RETINAL Cases &amp; Brief Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01271216-201000410-00012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:09:33Z","timestamp":1786039773000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01271216-201000410-00012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/icb.0b013e3181a59db6","relation":{},"ISSN":["1935-1089"],"issn-type":[{"value":"1935-1089","type":"print"}],"subject":[],"published":{"date-parts":[[2010]]}}}