{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T10:08:50Z","timestamp":1779962930946,"version":"3.53.1"},"reference-count":53,"publisher":"Charles University in Prague, Karolinum Press","issue":"5","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":3807,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"tdm","delay-in-days":3807,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["UNCE 204011"],"award-info":[{"award-number":["UNCE 204011"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PRVOUK P24\/LF1\/3"],"award-info":[{"award-number":["PRVOUK P24\/LF1\/3"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PRVOUK P49\/LF1\/3"],"award-info":[{"award-number":["PRVOUK P49\/LF1\/3"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["RVO-VFN64165\/2012"],"award-info":[{"award-number":["RVO-VFN64165\/2012"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fol. Biol."],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>\n                    Lipoprotein lipase (LPL) deficiency, caused by mutations in the\n                    <jats:italic>LPL<\/jats:italic>\n                    gene, is a rare autosomal recessive disorder manifesting in early childhood with recurrent abdominal pain, hepatosplenomegaly, acute pancreatitis, lipaemia retinalis and eruptive xanthomas. Typical laboratory findings are lactescent serum, extreme hypertriglyceridaemia and hypercholesterolaemia. The diagnostics is based on postheparin serum LPL assay and DNA analyses of the\n                    <jats:italic>LPL<\/jats:italic>\n                    gene. We report clinical, biochemical and molecular data of three children with LPL deficiency. One child manifested since the first week of life with recurrent abdominal pain (Patient 1), the second with abdominal distension and hepatosplenomegaly since the second month of life (Patient 3) and patient 2, asymptomatic younger brother of patient 1, was diagnosed in the first week of life. Lipaemia retinalis and splenomegaly were present in two symptomatic children, hepatomegaly in patient 3 and acute pancreatitis in patient 1. All children had lactescent serum, profound hypertriglyceridaemia (124 \u00b1 25 mmol\/l; controls &lt; 2.2), hypercholesterolaemia (22.8 \u00b1 7.3 mmol\/l, controls &lt; 4.2) and their LPL immunoreactive mass in serum did not increase after heparin injection. Molecular analyses revealed that both siblings are homozygous for novel mutation c.476C &gt; G in the\n                    <jats:italic>LPL<\/jats:italic>\n                    gene changing the conserved amino acid of the catalytic centre. The third patient is a compound heterozygote for mutations c.604G&gt;A and c.698A&gt;G in the\n                    <jats:italic>LPL<\/jats:italic>\n                    gene, both affecting highly conserved amino acids. We conclude that LPL deficiency must be considered in neonates and young infants with abdominal pain and hypertriglyceridaemia because early treatment might prevent development of life-threatening acute pancreatitis.\n                  <\/jats:p>","DOI":"10.14712\/fb2014060050235","type":"journal-article","created":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T05:04:04Z","timestamp":1717477444000},"page":"235-243","source":"Crossref","is-referenced-by-count":11,"title":["Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene"],"prefix":"10.14712","volume":"60","author":[{"given":"H.","family":"Kol\u00e1\u0159ov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tesa\u0159ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0160.","family":"\u0160vecov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Str\u00e1neck\u00fd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"P\u0159istoupilov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Zima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Uhrov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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