{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T22:30:17Z","timestamp":1762641017508},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1982,6,1]],"date-time":"1982-06-01T00:00:00Z","timestamp":391737600000},"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":[[1982,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. Hepatomegaly, facial dysmorphia, growth and\/or mental retardation and osteopenia were observed in addition to retinitis pigmentosa and neurosensory deafness. The presence of phytanic acid in serum (160\u2013320 \u00b5mol\/1 (50\u2013100 \u00b5g\/ml)) was accompanied by hypocholesterolaemia. Electron microscopy showed that a storage material had accumulated in mesenchymal and parenchymal liver cells. Lamellar structures were seen in hepatocytes and other storing cells. These inclusions resembled the structures found in plant chloroplasts containing phytol.<\/jats:p><jats:p>Some of the clinical and biological data obtained were consistent with Refsum's disease. However, other characteristics such as mental retardation, hepatomegaly, osteopenia, hypocholesterolaemia and hypoalphalipoproteinaemia, as well as the ultrastructural findings in the liver, suggested that our patients' illness was either a phytanic acid storage disease different from the classical form of Refsum's disease, or a more severe early symptomatic form of Refsum's disease. Early diagnosis by phytanic acid assay and electron microscopic liver examination calls for prescription of a low phytanate diet in the hope of improving the child's condition.<\/jats:p>","DOI":"10.1007\/bf01799998","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:43:04Z","timestamp":1119372184000},"page":"83-90","source":"Crossref","is-referenced-by-count":155,"title":["Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver"],"prefix":"10.1002","volume":"5","author":[{"given":"J. M.","family":"Scotto","sequence":"first","affiliation":[{"name":"Unit\u00e9 de recherches d'h\u00e9patologie infantile INSERM U 56 and Clinique de P\u00e9diatrie Universit\u00e9 Paris\u2010Sud, H\u00f4pital d'Enfants  Bic\u00eatre F\u201094270 France"}]},{"given":"M.","family":"Hadchouel","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de recherches d'h\u00e9patologie infantile INSERM U 56 and Clinique de P\u00e9diatrie Universit\u00e9 Paris\u2010Sud, H\u00f4pital d'Enfants  Bic\u00eatre F\u201094270 France"}]},{"given":"M.","family":"Odievre","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de recherches d'h\u00e9patologie infantile INSERM U 56 and Clinique de P\u00e9diatrie Universit\u00e9 Paris\u2010Sud, H\u00f4pital d'Enfants  Bic\u00eatre F\u201094270 France"}]},{"given":"M. \u2010H.","family":"Laudat","sequence":"additional","affiliation":[{"name":"INSERM U 35 H\u00f4pital Henri Mondor  Cr\u00e9teil F\u201094010 France"}]},{"given":"J. \u2010M.","family":"Saudubray","sequence":"additional","affiliation":[{"name":"Clinique G\u00e9n\u00e9tique et INSERM U 12 H\u00f4pital des Enfants\u2010Malades  Paris F\u201075015"}]},{"given":"O.","family":"Dulac","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie H\u00f4pital Saint\u2010Vincent\u2010de\u2010Paul  Paris F\u201075014"}]},{"given":"I.","family":"Beucler","sequence":"additional","affiliation":[{"name":"Service de Biochimie, CHU Saint\u2010Antoine  Paris F\u201075012"}]},{"given":"P.","family":"Beaune","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie Facult\u00e9 de M\u00e9decine Necker  Paris F\u201075015"}]}],"member":"311","published-online":{"date-parts":[[1982,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"355","article-title":"\u00dcber hepatocellul\u00e4re Mitosest\u00f6rungen und Kerneinschl\u00fcsse nach wiederholten Colchizingaben","volume":"131","author":"Altmann H. 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