{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T10:48:43Z","timestamp":1726570123586},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,10,7]],"date-time":"1993-10-07T00:00:00Z","timestamp":749952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>This report describes a patient with high serum phytanic acid concentration due to phytanic acid \u03b1\u2010oxidase deficiency (classical Refsum disease). He presented unusually early, hypotonia and developmental delay being apparent by 7 months. A generalized peroxisomal disorder (so\u2010called \u2018infantile Refsum disease\u2019) was excluded by analyses of pristanic acid, very long\u2010chain fatty acids, bile acids and plasmalogen synthesis. The early presentation raises the possibility of<jats:italic>in utero<\/jats:italic> exposure to phytanate.<\/jats:p>","DOI":"10.1007\/bf00711620","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T12:22:34Z","timestamp":1101817354000},"page":"211-214","source":"Crossref","is-referenced-by-count":9,"title":["Phytanic acid \u03b1\u2010oxidase deficiency (Refsum disease) presenting in infancy"],"prefix":"10.1002","volume":"17","author":[{"given":"M. A.","family":"Herbert","sequence":"first","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. T.","family":"Clayton","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London WC1N 1EH UK"},{"name":"Metabolic Disease Unit Institute of Child Health  London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,10,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1479","volume-title":"The Metabolic Basis of Inherited Disease","author":"Lazarow PB","year":"1989"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.3.222"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00511.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442211"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442210"},{"key":"e_1_2_1_7_1","first-page":"1533","volume-title":"The Metabolic Basis of Inherited Disease","author":"Steinberg D","year":"1989"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799330"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711620","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711620","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:14:33Z","timestamp":1694747673000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10,7]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1007\/BF00711620"],"URL":"https:\/\/doi.org\/10.1007\/bf00711620","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10,7]]}}}