{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:55:05Z","timestamp":1761101705654},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1994,2,4]],"date-time":"1994-02-04T00:00:00Z","timestamp":760320000000},"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":[[1994,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A boy aged 21 months who was being investigated for developmental delay and failure to thrive was found to have punctate epiphyseal calcification. He had no evidence of rhizomelic shortening of the limbs or cataracts. Investigation revealed defective plasmalogen synthesis due to isolated deficiency of dihydroxyacetonephosphate acyltransferase (DHAP\u2010AT). The parents were consanguineous and a sister was similarly affected, suggesting autosomal recessive inheritance. Hitherto, recessively inherited isolated DHAP\u2010AT deficiency has only been described in patients with a phenotype similar to that of rhizomelic chondrodysplasia punctata. This report indicates that the same biochemical disorder can be associated with a less severe phenotype.<\/jats:p>","DOI":"10.1007\/bf00711587","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T18:00:05Z","timestamp":1101837605000},"page":"533-540","source":"Crossref","is-referenced-by-count":36,"title":["Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay"],"prefix":"10.1002","volume":"17","author":[{"given":"P. T.","family":"Clayton","sequence":"first","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London"},{"name":"Metabolic Disease Unit Institute of Child Health  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Eckhardt","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. M.","family":"Hall","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Yousuf","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children  Great Ormond Street London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Biochemistry University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. B. H.","family":"Schutgens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Biochemistry University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1994,2,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.68.3.415"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)38802-7"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.463"},{"issue":"2","key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/BF03335422","article-title":"Peroxisomal enzyme deficiency in X\u2010linked dominant Conradi\u2010H\u00fcnermann syndrome","volume":"12","author":"Clayton PT","year":"1989","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00194319"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80689-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198706183162517"},{"key":"e_1_2_1_9_1","volume-title":"The Metabolic Basis of Inherited Disease","author":"Lazarow PB","year":"1989"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811703"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)38538-2"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(84)91430-X"},{"key":"e_1_2_1_13_1","first-page":"57","article-title":"Multiple peroxisomal enzyme deficiencies in rhizomelic chondrodysplasia punctata. Comparison with Zellweger syndrome, Conradi\u2010H\u00fcnermann syndrome and X\u2010linked dominant type of chondrodysplasia punctata","volume":"6","author":"Schutgens RBH","year":"1988","journal-title":"Adv Clin Enzymol"},{"key":"e_1_2_1_14_1","first-page":"294","article-title":"Peroxisomal disorders. Recent observations in the metabolism of very long chain fatty acids and plasmalogens","volume":"7","author":"Schutgens RBH","year":"1992","journal-title":"Int Pediatr"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/39.8.1632"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90203-1"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(91)90011-5"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02435984"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711817"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711587","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711587","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:05:57Z","timestamp":1694736357000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711587"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2,4]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1994,9]]}},"alternative-id":["10.1007\/BF00711587"],"URL":"https:\/\/doi.org\/10.1007\/bf00711587","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2,4]]}}}