{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T03:52:20Z","timestamp":1777866740841,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2009,10,7]],"date-time":"2009-10-07T00:00:00Z","timestamp":1254873600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2009,10,7]],"date-time":"2009-10-07T00:00:00Z","timestamp":1254873600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"abstract":"<jats:p>Background: We examined an 18-month-old girl with typical clinical features of X-linked dominant chondrodysplasia punctata (CDPX2) with decreased activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT), previously reported in CDPX2. On the other hand, steroid sulfatase, whose activity is deficient or decreased in X-linked ichthyosis and X-linked recessive chondrodysplasia punctata, has been reported to be normal in CDPX2, although all of these diseases have ichthyotic skin changes. Objective: We measured the activity of DHAP-AT and steroid sulfatase of the patient\u2019s fibroblasts to confirm the DHAP-AT abnormality in CDPX2. Results: The DHAP-AT activity was remarkably reduced, but steroid sulfatase activity was within normal levels when compared with those of 2 healthy controls. Conclusion: The abnormal metabolism in plasmalogen synthesis in CDPX2 was confirmed. It is, however, unknown how the decreased DHAP-AT activity is related to the skin changes.<\/jats:p>","DOI":"10.1159\/000246308","type":"journal-article","created":{"date-parts":[[2009,10,7]],"date-time":"2009-10-07T07:08:20Z","timestamp":1254899300000},"page":"23-27","source":"Crossref","is-referenced-by-count":5,"title":["X-Linked Dominant Chondrodysplasia punctata with Decreased Dihydroxyacetone Phosphate Acyltransferase Activity"],"prefix":"10.1159","author":[{"given":"M.","family":"Sato","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Miyachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,10,7]]},"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/246308","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000246308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T09:15:12Z","timestamp":1777540512000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000246308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,7]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000246308","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,7]]}}}