{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:18:01Z","timestamp":1777803481784,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2011,12,7]],"date-time":"2011-12-07T00:00:00Z","timestamp":1323216000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:p>Refsum disease is a genetic progressive neurological disorder caused by neurotoxic phytanic acid, a nutritional component patients are unable to metabolize. Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood. The authors report the case of a 14-year-old girl diagnosed because of night blindness. They treated her with a phytanic acid\u2013poor diet and extracorporeal lipid apheresis. They used different methods over a 30-month period. Thereafter, the patient was treated with diet only. Membrane filtration and heparin-induced extracorporeal low-density lipoprotein precipitation apheresis were well tolerated. Withdrawal of phytanic acid was studied quantitatively. During a 5-year period, blood phytanic acid levels decreased to a noncritical range. The patient remained free of ophthalmological and neurological progression for a total observation of 12 years. Early diagnosis and effective measures to keep the phytanic acid load low can probably prevent the serious sequelae of Refsum disease. Developing a method for newborn screening is desirable.<\/jats:p>","DOI":"10.1177\/0883073811424799","type":"journal-article","created":{"date-parts":[[2011,12,8]],"date-time":"2011-12-08T02:51:56Z","timestamp":1323312716000},"page":"654-656","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":21,"title":["A Child With Night Blindness"],"prefix":"10.1177","volume":"27","author":[{"given":"Alfried","family":"Kohlsch\u00fctter","sequence":"first","affiliation":[{"name":"Clinic for Degenerative Brain Diseases, Children\u2019s Hospital, University Medical Center Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Children\u2019s Hospital, University Medical Center Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoltan","family":"Lukacs","sequence":"additional","affiliation":[{"name":"Diagnostic Laboratory, University Medical Center Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Altenburg","sequence":"additional","affiliation":[{"name":"Lipid Clinics, Department of Internal Medicine, University Medical Center Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus J.","family":"Kemper","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Children\u2019s Hospital, University Medical Center Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"R\u00fcther","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, St Gertrauden-Krankenhaus, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,12,7]]},"reference":[{"key":"bibr1-0883073811424799","first-page":"3303","volume-title":"Metabolic and Molecular Bases of Inherited Disease (MMBID)","author":"Wanders R","year":"2005","edition":"8"},{"key":"bibr2-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.161059"},{"key":"bibr3-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1989.tb08416.x"},{"key":"bibr4-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711620"},{"key":"bibr5-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10315"},{"key":"bibr6-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2736(88)90055-7"},{"key":"bibr7-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1177\/039139880202501210"},{"key":"bibr8-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1016\/S1473-0502(03)00102-2"},{"key":"bibr9-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1016\/j.transci.2004.07.002"},{"key":"bibr10-0883073811424799","doi-asserted-by":"publisher","DOI":"10.1177\/000331979704801202"},{"key":"bibr11-0883073811424799","first-page":"67","volume":"315","author":"Armstrong VW","year":"1994","journal-title":"Chem Phys Lipids"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811424799","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073811424799","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811424799","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:31Z","timestamp":1777494991000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073811424799"}},"subtitle":["Preventing Serious Symptoms of Refsum Disease"],"short-title":[],"issued":{"date-parts":[[2011,12,7]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1177\/0883073811424799"],"URL":"https:\/\/doi.org\/10.1177\/0883073811424799","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,7]]}}}