{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:47:36Z","timestamp":1790534856918,"version":"4.1.0"},"publisher-location":"Boston, MA","reference-count":7,"publisher":"Springer US","isbn-type":[{"value":"9781461347828","type":"print"},{"value":"9781441990723","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004]]},"DOI":"10.1007\/978-1-4419-9072-3_6","type":"book-chapter","created":{"date-parts":[[2011,9,17]],"date-time":"2011-09-17T22:35:26Z","timestamp":1316298926000},"page":"57-58","source":"Crossref","is-referenced-by-count":7,"title":["Clinical Features & Retinal Function In Patients With Adult Refsum Syndrome"],"prefix":"10.1007","author":[{"given":"Bart P","family":"Leroy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris R","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela R","family":"Rath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicky","family":"Mcbain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Kestelyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan C","family":"Bird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham E","family":"Holder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"6_CR1","first-page":"327","volume":"31","author":"EL Berson","year":"1987","unstructured":"Berson E.L., 1987, Electroretinographic findings in retinitis pigmentosa. Jpn J Ophthalmol\n                31: 327\u2013348.","journal-title":"Jpn J Ophthalmol"},{"key":"6_CR2","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1038\/eye.1992.76","volume":"6","author":"KG Claridge","year":"1992","unstructured":"Claridge K.G., Gibberd F.B., Sidey M.C., 1992, Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. Eye, 6: 371\u2013375.","journal-title":"Eye"},{"key":"6_CR3","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1038\/ng1097-190","volume":"17","author":"GA Jansen","year":"1997","unstructured":"Jansen G.A., Ofman R., Ferdinandusse S., Ijlst L., Muijsers A.O., Skjeldal O.H., Stokke O., Jakobs C, Besley G.T., Wraith J.E., Wanders R.J., 1997, Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.Nat Genet\n                17:190\u2013193.","journal-title":"Nat Genet"},{"key":"6_CR4","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1056\/NEJM199707103370215","volume":"337","author":"GA Jansen","year":"1997","unstructured":"Jansen G.A., Wanders R.J., Watkins P.A., Mihalik S.J., 1997, Phytanoyl-coenzyme A hydroxylase deficiency - the enzyme defect in Refsum\u2019s disease. N Engl J Med, 337: 133\u2013134.","journal-title":"N Engl J Med"},{"key":"6_CR5","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/ng1097-185","volume":"17","author":"SJ Mihalik","year":"1997","unstructured":"Mihalik S.J, Morrell J.C, Kim D., Sacksteder K.A., Watkins P.A, Gould S.J, 1997, Identification of PAHX, a Refsum disease gene. Nat Genet, 17: 185\u2013189.","journal-title":"Nat Genet"},{"key":"6_CR6","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1086\/346093","volume":"72","author":"DM Brink van den","year":"2003","unstructured":"van den Brink D.M, Brites P, Haasjes J, Wierzbicki A.S, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen G.A, Waterham H.R, Wanders R.J, 2003, Identification of PEX7 as the second gene involved in Refsum disease.Am J Hum Genet\n                72,471\u2013477.","journal-title":"Am J Hum Genet"},{"key":"6_CR7","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"RJA Wanders","year":"2001","unstructured":"Wanders R.J.A, Jakobs C, Skjeldal O.H, 2001, Refsum Disease, in: The Metabolic and Molecular Bases of Inherited Disease, Editors: Scriver C.R, Beaudet A.L, Sly W.S, Valle D, Childs B, Kinzler K.W, Vogelstein B, McGraw-Hill, Inc., New York."}],"container-title":["Advances in Experimental Medicine and Biology","Peroxisomal Disorders and Regulation of Genes"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4419-9072-3_6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,6]],"date-time":"2019-04-06T18:12:06Z","timestamp":1554574326000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4419-9072-3_6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"ISBN":["9781461347828","9781441990723"],"references-count":7,"URL":"https:\/\/doi.org\/10.1007\/978-1-4419-9072-3_6","relation":{},"ISSN":["0065-2598"],"issn-type":[{"value":"0065-2598","type":"print"}],"subject":[],"published":{"date-parts":[[2004]]}}}