{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:25:13Z","timestamp":1792092313647,"version":"4.4.0"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1986,2,12]],"date-time":"1986-02-12T00:00:00Z","timestamp":508550400000},"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":[[1986,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cultured skin fibroblasts from six patients demonstrating clinical signs and biochemical characteristics of infantile phytanic acid storage disease (IPSD) were examined by electron microscopy, using cytochemical procedures for the demonstration of peroxisomal catalase activity. In four of the six fibroblast cell lines peroxisomes strongly reactive for catalase were present in numbers similar to those found in normal fibroblasts. Liver biopsy tissue from one of these patients showed no typical hepatic peroxisomes, but did show small, marginally reactive bodies. In two other IPSD fibroblast cell lines peroxisomes with appreciable cytochemical reactivity were rare or absent. It seems, therefore, that infantile phytanic acid storage disease is heterogeneous with respect to the presence of cytochemically recognizable peroxisomes, at least in the cases studied here. Furthermore, peroxisomes may be markedly affected in one cell type \u2014 liver \u2014 and yet not affected in another \u2014 skin fibroblasts \u2014 within a single individual.<\/jats:p>","DOI":"10.1007\/bf01800481","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:53:58Z","timestamp":1119372838000},"page":"321-334","source":"Crossref","is-referenced-by-count":27,"title":["Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts"],"prefix":"10.1002","volume":"9","author":[{"given":"M. E.","family":"Beard","sequence":"first","affiliation":[{"name":"Department of Biological Sciences Columbia University  New York NY 10027 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. B.","family":"Moser","sequence":"additional","affiliation":[{"name":"John F. Kennedy Center for Handicapped Children and Department of Neurology Johns Hopkins University  Baltimore MD 21205 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Sapirstein","sequence":"additional","affiliation":[{"name":"Eunice K. Shriver Center for Mental Retardation and Department of Biological Chemistry Harvard Medical School  Waltham MA 02254 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Holtzman","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Columbia University  New York NY 10027 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1986,2,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.100.5.1789"},{"key":"e_1_2_1_3_1","article-title":"Is a childhood Refsum's disease a peroxisomal disorder?","volume":"101","author":"Beard M. E.","year":"1985","journal-title":"J. Cell. 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