{"id":"https://openalex.org/W2992644971","doi":"https://doi.org/10.14712/fb2014060050235","title":"Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene","display_name":"Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2992644971","doi":"https://doi.org/10.14712/fb2014060050235","mag":"2992644971","pmid":"https://pubmed.ncbi.nlm.nih.gov/25863041"},"language":"en","primary_location":{"id":"doi:10.14712/fb2014060050235","doi":"https://doi.org/10.14712/fb2014060050235","is_oa":true,"landing_page_url":"https://doi.org/10.14712/fb2014060050235","pdf_url":"https://foliabiologica.lf1.cuni.cz/media/pdf/fb_2014060050235.pdf","source":{"id":"https://openalex.org/S72738211","display_name":"Folia Biologica","issn_l":"0015-5500","issn":["0015-5500","2533-7602"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310314351","host_organization_name":"First Faculty of Medicine, Charles University","host_organization_lineage":["https://openalex.org/P4310314351","https://openalex.org/P4310314207"],"host_organization_lineage_names":["First Faculty of Medicine, Charles University","Charles University"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Folia Biologica","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://foliabiologica.lf1.cuni.cz/media/pdf/fb_2014060050235.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112179717","display_name":"Hana Kol\u00e1\u0159ov\u00e1","orcid":"https://orcid.org/0000-0002-6156-4841","observed_orcids":["https://orcid.org/0000-0002-6156-4841"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"H. Kol\u00e1\u0159ov\u00e1","raw_affiliation_strings":["Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063835245","display_name":"Mark\u00e9ta Tesa\u0159ov\u00e1","orcid":"https://orcid.org/0000-0002-5200-7365","observed_orcids":["https://orcid.org/0000-0002-5200-7365"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"M. Tesa\u0159ov\u00e1","raw_affiliation_strings":["Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064070514","display_name":"\u0160 \u0160vecov\u00e1","orcid":"https://orcid.org/0000-0003-4047-6102","observed_orcids":["https://orcid.org/0000-0003-4047-6102"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"\u0160. \u0160vecov\u00e1","raw_affiliation_strings":["Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010974782","display_name":"Viktor Str\u00e1neck\u00fd","orcid":"https://orcid.org/0000-0002-2599-6479","observed_orcids":["https://orcid.org/0000-0002-2599-6479"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"V. Str\u00e1neck\u00fd","raw_affiliation_strings":["Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023217285","display_name":"Anna P\u0159istoupilov\u00e1","orcid":"https://orcid.org/0000-0003-0047-9405","observed_orcids":["https://orcid.org/0000-0003-0047-9405"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"A. P\u0159istoupilov\u00e1","raw_affiliation_strings":["Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004415321","display_name":"Tom\u00e1\u0161 Zima","orcid":"https://orcid.org/0000-0001-8518-6972","observed_orcids":["https://orcid.org/0000-0001-8518-6972"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"T. Zima","raw_affiliation_strings":["Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053830259","display_name":"Jana Uhrov\u00e1","orcid":"https://orcid.org/0000-0002-2933-8422","observed_orcids":["https://orcid.org/0000-0002-2933-8422"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"J. Uhrov\u00e1","raw_affiliation_strings":["Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077924052","display_name":"S. Ya. Volgina","orcid":"https://orcid.org/0000-0002-4147-2309","observed_orcids":["https://orcid.org/0000-0002-4147-2309"]},"institutions":[{"id":"https://openalex.org/I186356647","display_name":"Kazan State Medical University","ror":"https://ror.org/013pk4y14","country_code":"RU","type":"education","lineage":["https://openalex.org/I186356647"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"S. Y. Volgina","raw_affiliation_strings":["Kazan State Medical University, Kazan, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kazan State Medical University, Kazan, Russia","institution_ids":["https://openalex.org/I186356647"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033861784","display_name":"J Zeman","orcid":"https://orcid.org/0000-0002-2678-7919","observed_orcids":["https://orcid.org/0000-0002-2678-7919"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"J. Zeman","raw_affiliation_strings":["Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5034969299","display_name":"Tom\u00e1\u0161 Honz\u00edk","orcid":"https://orcid.org/0000-0003-4300-2519","observed_orcids":["https://orcid.org/0000-0003-4300-2519"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"funder","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Tom\u00e1\u0161 Honz\u00edk","raw_affiliation_strings":["Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.3237,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.83438573,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"60","issue":"5","first_page":"235","last_page":"243"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11844","display_name":"Lipid metabolism and biosynthesis","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lipoprotein-lipase-deficiency","display_name":"lipoprotein lipase deficiency","score":1.0},{"id":"https://openalex.org/keywords/lpl-gene-mutations","display_name":"LPL gene mutations","score":0.9380000233650208},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7300000190734863},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9160000085830688},{"id":"https://openalex.org/keywords/hypertriglyceridemia","display_name":"hypertriglyceridemia","score":0.8730000257492065},{"id":"https://openalex.org/keywords/hypercholesterolemia","display_name":"hypercholesterolemia","score":0.9629999995231628},{"id":"https://openalex.org/keywords/recurrent-abdominal-pain","display_name":"recurrent abdominal pain","score":0.7260000109672546},{"id":"https://openalex.org/keywords/acute-pancreatitis","display_name":"acute pancreatitis","score":0.925000011920929},{"id":"https://openalex.org/keywords/eruptive-xanthoma","display_name":"eruptive xanthoma","score":0.9079999923706055},{"id":"https://openalex.org/keywords/hepatosplenomegaly","display_name":"hepatosplenomegaly","score":0.9800000190734863},{"id":"https://openalex.org/keywords/neonatal-diagnosis","display_name":"neonatal diagnosis","score":0.6869999766349792},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.7559999823570251}],"concepts":[{"id":"https://openalex.org/C2779440204","wikidata":"https://www.wikidata.org/wiki/Q1260186","display_name":"Hepatosplenomegaly","level":3,"score":0.8257194757461548},{"id":"https://openalex.org/C94879076","wikidata":"https://www.wikidata.org/wiki/Q420014","display_name":"Lipoprotein lipase","level":3,"score":0.7437880635261536},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6503215432167053},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5739316940307617},{"id":"https://openalex.org/C2780955771","wikidata":"https://www.wikidata.org/wiki/Q183425","display_name":"Abdominal pain","level":2,"score":0.5438783764839172},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5066026449203491},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5033537745475769},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.48496055603027344},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.4690174460411072},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.46518510580062866},{"id":"https://openalex.org/C2776670229","wikidata":"https://www.wikidata.org/wiki/Q854573","display_name":"Acute pancreatitis","level":2,"score":0.4615360200405121},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4459969997406006},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.33527901768684387},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2790446877479553},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21290358901023865},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19477057456970215},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17565029859542847},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.08561128377914429},{"id":"https://openalex.org/C171089720","wikidata":"https://www.wikidata.org/wiki/Q193583","display_name":"Adipose tissue","level":2,"score":0.062422603368759155}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008071","descriptor_name":"Lipoprotein Lipase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D008071","descriptor_name":"Lipoprotein Lipase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008072","descriptor_name":"Hyperlipoproteinemia Type I","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008072","descriptor_name":"Hyperlipoproteinemia Type I","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008072","descriptor_name":"Hyperlipoproteinemia Type I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008072","descriptor_name":"Hyperlipoproteinemia Type I","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.14712/fb2014060050235","doi":"https://doi.org/10.14712/fb2014060050235","is_oa":true,"landing_page_url":"https://doi.org/10.14712/fb2014060050235","pdf_url":"https://foliabiologica.lf1.cuni.cz/media/pdf/fb_2014060050235.pdf","source":{"id":"https://openalex.org/S72738211","display_name":"Folia Biologica","issn_l":"0015-5500","issn":["0015-5500","2533-7602"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310314351","host_organization_name":"First Faculty of Medicine, Charles University","host_organization_lineage":["https://openalex.org/P4310314351","https://openalex.org/P4310314207"],"host_organization_lineage_names":["First Faculty of Medicine, Charles University","Charles University"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Folia Biologica","raw_type":"journal-article"},{"id":"pmid:25863041","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25863041","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Folia biologica","raw_type":"Case Reports"},{"id":"mag:2186741454","doi":null,"is_oa":false,"landing_page_url":"https://fb.cuni.cz/file/5757/fb2014a0044.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.14712/fb2014060050235","doi":"https://doi.org/10.14712/fb2014060050235","is_oa":true,"landing_page_url":"https://doi.org/10.14712/fb2014060050235","pdf_url":"https://foliabiologica.lf1.cuni.cz/media/pdf/fb_2014060050235.pdf","source":{"id":"https://openalex.org/S72738211","display_name":"Folia Biologica","issn_l":"0015-5500","issn":["0015-5500","2533-7602"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310314351","host_organization_name":"First Faculty of Medicine, Charles University","host_organization_lineage":["https://openalex.org/P4310314351","https://openalex.org/P4310314207"],"host_organization_lineage_names":["First Faculty of Medicine, Charles University","Charles University"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Folia Biologica","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1060301025","display_name":null,"funder_award_id":"PRVOUK P49/LF1/3","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"},{"id":"https://openalex.org/G1919522010","display_name":null,"funder_award_id":"PRVOUK-P24/LF1/3","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"},{"id":"https://openalex.org/G2967552665","display_name":null,"funder_award_id":"RVO VFN64165","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"},{"id":"https://openalex.org/G3791348113","display_name":null,"funder_award_id":"RVO-VFN64165/2012","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"},{"id":"https://openalex.org/G4911862885","display_name":null,"funder_award_id":"PRVOUK P24","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"},{"id":"https://openalex.org/G5767157103","display_name":null,"funder_award_id":"UNCE 204011","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"},{"id":"https://openalex.org/G8422472567","display_name":null,"funder_award_id":"P24/LF1/3","funder_id":"https://openalex.org/F4320309755","funder_display_name":"Univerzita Karlova v Praze"}],"funders":[{"id":"https://openalex.org/F4320309755","display_name":"Univerzita Karlova v Praze","ror":"https://ror.org/024d6js02"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2992644971.pdf","grobid_xml":"https://content.openalex.org/works/W2992644971.grobid-xml"},"referenced_works_count":55,"referenced_works":["https://openalex.org/W104436330","https://openalex.org/W135142038","https://openalex.org/W206493281","https://openalex.org/W609012926","https://openalex.org/W1441643255","https://openalex.org/W1483242733","https://openalex.org/W1506400552","https://openalex.org/W1538996896","https://openalex.org/W1569224973","https://openalex.org/W1589936970","https://openalex.org/W1778185206","https://openalex.org/W1893598854","https://openalex.org/W1964570536","https://openalex.org/W1966992620","https://openalex.org/W1978801803","https://openalex.org/W1979990269","https://openalex.org/W1982040758","https://openalex.org/W1985470581","https://openalex.org/W1991160548","https://openalex.org/W1998771947","https://openalex.org/W2003524485","https://openalex.org/W2010619686","https://openalex.org/W2012029197","https://openalex.org/W2019050982","https://openalex.org/W2037571032","https://openalex.org/W2041372351","https://openalex.org/W2059960371","https://openalex.org/W2063287433","https://openalex.org/W2066517114","https://openalex.org/W2068700927","https://openalex.org/W2075874339","https://openalex.org/W2080036080","https://openalex.org/W2082799810","https://openalex.org/W2088469693","https://openalex.org/W2089666854","https://openalex.org/W2090908697","https://openalex.org/W2092051680","https://openalex.org/W2092406910","https://openalex.org/W2094303805","https://openalex.org/W2107601712","https://openalex.org/W2118610670","https://openalex.org/W2120322365","https://openalex.org/W2129413932","https://openalex.org/W2141000687","https://openalex.org/W2142020606","https://openalex.org/W2145856453","https://openalex.org/W2150779000","https://openalex.org/W2155593028","https://openalex.org/W2186970850","https://openalex.org/W2288683653","https://openalex.org/W2300995855","https://openalex.org/W2403987486","https://openalex.org/W3023311720","https://openalex.org/W3216297003","https://openalex.org/W4233853656"],"related_works":["https://openalex.org/W2186741454","https://openalex.org/W2888118270","https://openalex.org/W2059960371","https://openalex.org/W2725349284","https://openalex.org/W3199999032","https://openalex.org/W2068597478","https://openalex.org/W1985583465","https://openalex.org/W2112343871","https://openalex.org/W3032433121","https://openalex.org/W2745301853"],"abstract_inverted_index":{"Lipoprotein":[0],"lipase":[1],"(LPL)":[2],"deficiency,":[3],"caused":[4],"by":[5],"mutations":[6,209],"in":[7,18,113,125,130,136,166,188,213,231],"the":[8,56,76,87,95,114,189,193,198,214],"LPL":[9,50,57,70,163,190,215,226],"gene,":[10,216],"is":[11,45,204],"a":[12,205],"rare":[13],"autosomal":[14],"recessive":[15],"disorder":[16],"manifesting":[17],"early":[19,242],"childhood":[20],"with":[21,69,81,89,236],"recurrent":[22,82],"abdominal":[23,83,90,237],"pain,":[24],"hepatosplenomegaly,":[25],"acute":[26,134,249],"pancreatitis,":[27],"lipaemia":[28],"retinalis":[29,120],"and":[30,41,52,63,92,102,121,133,161,211,233,239],"eruptive":[31],"xanthomas.":[32],"Typical":[33],"laboratory":[34],"findings":[35],"are":[36,180],"lactescent":[37,142],"serum,":[38,143],"extreme":[39],"hypertriglyceridaemia":[40,145,240],"hypercholesterolaemia.":[42],"The":[43,201],"diagnostics":[44],"based":[46],"on":[47],"postheparin":[48],"serum":[49,167],"assay":[51],"DNA":[53],"analyses":[54,175],"of":[55,66,79,98,108,117,197,247],"gene.":[58],"We":[59,223],"report":[60],"clinical,":[61],"biochemical":[62],"molecular":[64],"data":[65],"three":[67],"children":[68,140],"deficiency.":[71],"One":[72],"child":[73],"manifested":[74],"since":[75,94],"first":[77,115],"week":[78,116],"life":[80,99],"pain":[84,238],"(Patient":[85,100],"1),":[86],"second":[88,96],"distension":[91],"hepatosplenomegaly":[93],"month":[97],"3)":[101],"patient":[103,109,131,137,203],"2,":[104],"asymptomatic":[105],"younger":[106],"brother":[107],"1,":[110],"was":[111],"diagnosed":[112],"life.":[118],"Lipaemia":[119],"splenomegaly":[122],"were":[123],"present":[124],"two":[126],"symptomatic":[127],"children,":[128],"hepatomegaly":[129],"3":[132],"pancreatitis":[135],"1.":[138],"All":[139],"had":[141],"profound":[144],"(124":[146],"\u00b1":[147,155],"25":[148],"mmol/l;":[149],"controls":[150,158],"<":[151,159],"2.2),":[152],"hypercholesterolaemia":[153],"(22.8":[154],"7.3":[156],"mmol/l,":[157],"4.2)":[160],"their":[162],"immunoreactive":[164],"mass":[165],"did":[168],"not":[169],"increase":[170],"after":[171],"heparin":[172],"injection.":[173],"Molecular":[174],"revealed":[176],"that":[177,225],"both":[178,217],"siblings":[179],"homozygous":[181],"for":[182,208],"novel":[183],"mutation":[184],"c.476C":[185],">":[186],"G":[187],"gene":[191],"changing":[192],"conserved":[194,220],"amino":[195,221],"acid":[196],"catalytic":[199],"centre.":[200],"third":[202],"compound":[206],"heterozygote":[207],"c.604G>A":[210],"c.698A>G":[212],"affecting":[218],"highly":[219],"acids.":[222],"conclude":[224],"deficiency":[227],"must":[228],"be":[229],"considered":[230],"neonates":[232],"young":[234],"infants":[235],"because":[241],"treatment":[243],"might":[244],"prevent":[245],"development":[246],"life-threatening":[248],"pancreatitis.":[250]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-12-13T00:00:00"}
