{"id":"https://openalex.org/W2054828474","doi":"https://doi.org/10.1007/bf02093726","title":"A case of abetalipoproteinaemia in a Polish family","display_name":"A case of abetalipoproteinaemia in a Polish family","publication_year":1991,"publication_date":"1991-04-01","ids":{"openalex":"https://openalex.org/W2054828474","doi":"https://doi.org/10.1007/bf02093726","mag":"2054828474","pmid":"https://pubmed.ncbi.nlm.nih.gov/2040353"},"language":"en","primary_location":{"id":"doi:10.1007/bf02093726","doi":"https://doi.org/10.1007/bf02093726","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf02093726","pdf_url":null,"source":{"id":"https://openalex.org/S48201647","display_name":"European Journal of Pediatrics","issn_l":"0340-6199","issn":["0340-6199","1432-1076"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014880441","display_name":"Marek Kaci\u0144ski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Kaci\u0144ski","raw_affiliation_strings":["Institute of Paediatrics, Medical Academy Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036623269","display_name":"Franciszek Kaczmarski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F. Kaczmarski","raw_affiliation_strings":["Institute of Paediatrics, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","Institute of Paediatrics, Medical Academy Krakow, Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","institution_ids":[]},{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Krakow, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015513322","display_name":"W Miezy\u0144ski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W. Miezy\u0144ski","raw_affiliation_strings":["Institute of Paediatrics, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","Institute of Paediatrics, Medical Academy Krakow, Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","institution_ids":[]},{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Krakow, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091535845","display_name":"Zofia Grzenda\u2010Adamek","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Z. Grzenda-Adamek","raw_affiliation_strings":["Institute of Paediatrics, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","Institute of Paediatrics, Medical Academy Krakow, Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","institution_ids":[]},{"raw_affiliation_string":"Institute of Paediatrics, Medical Academy Krakow, Krakow, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045315337","display_name":"Barbara Miszczuk-Jamska","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B. Miszczuk-Jamska","raw_affiliation_strings":["Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Krakow, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058886596","display_name":"Janina Stopyrowa","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Stopyrowa","raw_affiliation_strings":["Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Krakow, Poland","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060108758","display_name":"J Sznajd","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Sznajd","raw_affiliation_strings":["Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Krakow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Wielicka 265, 30-663, Krakow, Poland","institution_ids":[]},{"raw_affiliation_string":"Department of Clinical Chemistry and Clinic of Metabolic Diseases, Medical Academy Krakow, Krakow, Poland","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.15557734,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"150","issue":"6","first_page":"429","last_page":"432"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.8939999938011169,"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":0.8939999938011169,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.093299999833107,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.0017000000225380063,"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/abetalipoproteinemia","display_name":"abetalipoproteinemia","score":0.953000009059906},{"id":"https://openalex.org/keywords/acanthocytosis","display_name":"acanthocytosis","score":0.9150000214576721},{"id":"https://openalex.org/keywords/malabsorption","display_name":"malabsorption","score":0.7639999985694885},{"id":"https://openalex.org/keywords/neurological-symptoms","display_name":"neurological symptoms","score":0.6650000214576721},{"id":"https://openalex.org/keywords/ocular-symptoms","display_name":"ocular symptoms","score":0.8289999961853027},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8820000290870667},{"id":"https://openalex.org/keywords/apolipoprotein-b","display_name":"apolipoprotein B","score":0.906000018119812},{"id":"https://openalex.org/keywords/apolipoprotein-a-i","display_name":"apolipoprotein A-I","score":0.9779999852180481},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.7310000061988831},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.41999998688697815}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9072082042694092},{"id":"https://openalex.org/C2780439177","wikidata":"https://www.wikidata.org/wiki/Q1442923","display_name":"Malabsorption","level":2,"score":0.7389163970947266},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5723892450332642},{"id":"https://openalex.org/C2780430339","wikidata":"https://www.wikidata.org/wiki/Q10861465","display_name":"Brother","level":2,"score":0.44329020380973816},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.43615761399269104},{"id":"https://openalex.org/C2777106239","wikidata":"https://www.wikidata.org/wiki/Q595094","display_name":"Sister","level":2,"score":0.4202856421470642},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.37007665634155273},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.34146198630332947},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C19165224","wikidata":"https://www.wikidata.org/wiki/Q23404","display_name":"Anthropology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000012","descriptor_name":"Abetalipoproteinemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000012","descriptor_name":"Abetalipoproteinemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D000012","descriptor_name":"Abetalipoproteinemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000050","descriptor_name":"Acanthocytes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001059","descriptor_name":"Apoproteins","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D008055","descriptor_name":"Lipids","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008286","descriptor_name":"Malabsorption Syndromes","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008286","descriptor_name":"Malabsorption Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf02093726","doi":"https://doi.org/10.1007/bf02093726","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf02093726","pdf_url":null,"source":{"id":"https://openalex.org/S48201647","display_name":"European Journal of Pediatrics","issn_l":"0340-6199","issn":["0340-6199","1432-1076"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Pediatrics","raw_type":"journal-article"},{"id":"pmid:2040353","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2040353","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":"European journal of pediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W186925836","https://openalex.org/W1176753307","https://openalex.org/W1816211666","https://openalex.org/W1871765612","https://openalex.org/W2010668788","https://openalex.org/W2011471993","https://openalex.org/W2042839787","https://openalex.org/W2079902343","https://openalex.org/W2084304058","https://openalex.org/W2084779432","https://openalex.org/W2085645152","https://openalex.org/W2189623052","https://openalex.org/W2401632269","https://openalex.org/W2414067024"],"related_works":["https://openalex.org/W2265557238","https://openalex.org/W2144593245","https://openalex.org/W1943758612","https://openalex.org/W2411134125","https://openalex.org/W2019203752","https://openalex.org/W1425643013","https://openalex.org/W2128596466","https://openalex.org/W3159318008","https://openalex.org/W4220983484","https://openalex.org/W7097885973"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}