{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,26]],"date-time":"2025-04-26T15:43:03Z","timestamp":1745682183980},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,9,24]],"date-time":"2004-09-24T00:00:00Z","timestamp":1095984000000},"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":[[2005,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false\u2010positive neonatal screening test for biotinidase deficiency. We conclude that both the fluorimetric and the colorimetric screening tests for biotinidase deficiency used with dried blood samples are affected by severe hyperchylomicronaemia and that, most probably, severe plasma turbidity interferes with the assay.<\/jats:p>","DOI":"10.1007\/s10545-005-7060-5","type":"journal-article","created":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T09:14:17Z","timestamp":1115198057000},"page":"137-140","source":"Crossref","is-referenced-by-count":4,"title":["Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false\u2010positive newborn screening for biotinidase deficiency"],"prefix":"10.1002","volume":"28","author":[{"given":"R.","family":"Santer","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Children's Hospital Hamburg  Germany"},{"name":"Department of Pediatrics University Children's Hospital  Martinistra\u00dfe 52 Hamburg 20246 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Gok\u00e7ay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Children's Hospital Istanbul  Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Demirkol","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Children's Hospital Istanbul  Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gal","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Hamburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Lukacs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Children's Hospital Hamburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,24]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-7060-5","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-7060-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:24:54Z","timestamp":1694820294000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-7060-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,24]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1007\/s10545-005-7060-5"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-7060-5","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,24]]}}}