{"id":"https://openalex.org/W3043839053","doi":"https://doi.org/10.1016/j.ejmg.2020.104022","title":"Lowe syndrome \u2013 Old and new evidence of secondary mitochondrial dysfunction","display_name":"Lowe syndrome \u2013 Old and new evidence of secondary mitochondrial dysfunction","publication_year":2020,"publication_date":"2020-07-23","ids":{"openalex":"https://openalex.org/W3043839053","doi":"https://doi.org/10.1016/j.ejmg.2020.104022","mag":"3043839053","pmid":"https://pubmed.ncbi.nlm.nih.gov/32712215"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmg.2020.104022","doi":"https://doi.org/10.1016/j.ejmg.2020.104022","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2020.104022","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical Genetics","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/A5107848147","display_name":"Katja K. Dumic","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I138937732","display_name":"University Hospital Centre Zagreb","ror":"https://ror.org/00r9vb833","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I138937732"]},{"id":"https://openalex.org/I181343428","display_name":"University of Zagreb","ror":"https://ror.org/00mv6sv71","country_code":"HR","type":"education","lineage":["https://openalex.org/I181343428"]}],"countries":["HR"],"is_corresponding":true,"raw_author_name":"Katja K. Dumic","raw_affiliation_strings":["Department of Pediatrics, Division for Pediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb Medical School, Croatia. Electronic address: katja.dumic@gmail.com","Department of Pediatrics, Division for Pediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb Medical School, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division for Pediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb Medical School, Croatia. Electronic address: katja.dumic@gmail.com","institution_ids":["https://openalex.org/I138937732","https://openalex.org/I181343428"]},{"raw_affiliation_string":"Department of Pediatrics, Division for Pediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb Medical School, Croatia","institution_ids":["https://openalex.org/I138937732","https://openalex.org/I181343428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038460441","display_name":"Darko Anti\u010devi\u0107","orcid":"https://orcid.org/0000-0001-6713-1273","observed_orcids":["https://orcid.org/0000-0001-6713-1273"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Darko Anticevic","raw_affiliation_strings":["Division of Orthopedic Surgery, Specialty Hospital 'St. Catherine', Zabok, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Orthopedic Surgery, Specialty Hospital 'St. Catherine', Zabok, Croatia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031605205","display_name":"Jelena Petrinovi\u0107-Dore\u0161i\u010d","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086219","display_name":"Klini\u010dka bolnica \"Sveti Duh\"","ror":"https://ror.org/00t8kk495","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I4210086219"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Jelena Petrinovic-Doresic","raw_affiliation_strings":["Department of Ophthalmology, University Hospital Sveti Duh, Zagreb, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, University Hospital Sveti Duh, Zagreb, Croatia","institution_ids":["https://openalex.org/I4210086219"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066171979","display_name":"Tamara \u017digman","orcid":"https://orcid.org/0000-0003-1184-8798","observed_orcids":["https://orcid.org/0000-0003-1184-8798"]},"institutions":[{"id":"https://openalex.org/I138937732","display_name":"University Hospital Centre Zagreb","ror":"https://ror.org/00r9vb833","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I138937732"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Tamara Zigman","raw_affiliation_strings":["Department of Pediatrics, Division for Genetics and Inherited Metabolic Diseases, University Hospital Centre Zagreb, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division for Genetics and Inherited Metabolic Diseases, University Hospital Centre Zagreb, Croatia","institution_ids":["https://openalex.org/I138937732"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108464125","display_name":"Kamelija \u017darkovi\u0107","orcid":"https://orcid.org/0009-0006-2460-4046","observed_orcids":["https://orcid.org/0009-0006-2460-4046"]},"institutions":[{"id":"https://openalex.org/I138937732","display_name":"University Hospital Centre Zagreb","ror":"https://ror.org/00r9vb833","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I138937732"]},{"id":"https://openalex.org/I181343428","display_name":"University of Zagreb","ror":"https://ror.org/00mv6sv71","country_code":"HR","type":"education","lineage":["https://openalex.org/I181343428"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Kamelija Zarkovi\u0107","raw_affiliation_strings":["Department of Pathology, University Hospital Centre Zagreb, University of Zagreb Medical School, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University Hospital Centre Zagreb, University of Zagreb Medical School, Croatia","institution_ids":["https://openalex.org/I138937732","https://openalex.org/I181343428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051840363","display_name":"Filip Roki\u0107","orcid":"https://orcid.org/0000-0002-9426-8344","observed_orcids":["https://orcid.org/0000-0002-9426-8344"]},"institutions":[{"id":"https://openalex.org/I4210123216","display_name":"Ru\u0111er Bo\u0161kovi\u0107 Institute","ror":"https://ror.org/02mw21745","country_code":"HR","type":"facility","lineage":["https://openalex.org/I4210123216"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Filip Rokic","raw_affiliation_strings":["Laboratory for Advanced Genomics, Ru\u0111er Bo\u0161kovi\u0107 Institute, Zagreb, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Advanced Genomics, Ru\u0111er Bo\u0161kovi\u0107 Institute, Zagreb, Croatia","institution_ids":["https://openalex.org/I4210123216"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051610901","display_name":"Oliver Vugrek","orcid":"https://orcid.org/0000-0002-8482-8889","observed_orcids":["https://orcid.org/0000-0002-8482-8889"]},"institutions":[{"id":"https://openalex.org/I4210123216","display_name":"Ru\u0111er Bo\u0161kovi\u0107 Institute","ror":"https://ror.org/02mw21745","country_code":"HR","type":"facility","lineage":["https://openalex.org/I4210123216"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Oliver Vugrek","raw_affiliation_strings":["Laboratory for Advanced Genomics, Ru\u0111er Bo\u0161kovi\u0107 Institute, Zagreb, Croatia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Advanced Genomics, Ru\u0111er Bo\u0161kovi\u0107 Institute, Zagreb, Croatia","institution_ids":["https://openalex.org/I4210123216"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5107848147"],"corresponding_institution_ids":["https://openalex.org/I138937732","https://openalex.org/I181343428"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.4982,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.54877575,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"63","issue":"10","first_page":"104022","last_page":"104022"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.7006999850273132,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.7006999850273132,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.06120000034570694,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.03750000149011612,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lowe-syndrome","display_name":"Lowe syndrome","score":0.9879999756813049},{"id":"https://openalex.org/keywords/oculocerebrorenal-syndrome","display_name":"oculocerebrorenal syndrome","score":0.8730000257492065},{"id":"https://openalex.org/keywords/ocrl-gene","display_name":"OCRL gene","score":0.8560000061988831},{"id":"https://openalex.org/keywords/congenital-cataract","display_name":"congenital cataract","score":0.8209999799728394},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.8119999766349792},{"id":"https://openalex.org/keywords/renal-tubular-dysfunction","display_name":"renal tubular dysfunction","score":0.8740000128746033},{"id":"https://openalex.org/keywords/x-linked-disorders","display_name":"X-linked disorders","score":0.6320000290870667}],"concepts":[{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.8993408679962158},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5633143782615662},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.5394194722175598},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.5388251543045044},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.5366425514221191},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.494312047958374},{"id":"https://openalex.org/C181561989","wikidata":"https://www.wikidata.org/wiki/Q2581905","display_name":"Heteroplasmy","level":4,"score":0.42549800872802734},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4126175343990326},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.38769328594207764},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3846527338027954},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3774203360080719},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.37247490882873535},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2992435693740845},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2540675401687622},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23501935601234436}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009800","descriptor_name":"Oculocerebrorenal Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D009800","descriptor_name":"Oculocerebrorenal Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009800","descriptor_name":"Oculocerebrorenal Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009800","descriptor_name":"Oculocerebrorenal Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010744","descriptor_name":"Phosphoric Monoester Hydrolases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010744","descriptor_name":"Phosphoric Monoester Hydrolases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ejmg.2020.104022","doi":"https://doi.org/10.1016/j.ejmg.2020.104022","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2020.104022","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:32712215","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32712215","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 medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1556038076","https://openalex.org/W1559330522","https://openalex.org/W1882107274","https://openalex.org/W1993970354","https://openalex.org/W2026141376","https://openalex.org/W2037266640","https://openalex.org/W2048061983","https://openalex.org/W2068800356","https://openalex.org/W2118161298","https://openalex.org/W2120560965","https://openalex.org/W2126632552","https://openalex.org/W2147218086","https://openalex.org/W2311185446","https://openalex.org/W2905650262","https://openalex.org/W2913354576"],"related_works":["https://openalex.org/W3206927426","https://openalex.org/W3130727380","https://openalex.org/W3190188059","https://openalex.org/W4396867149","https://openalex.org/W2311185446","https://openalex.org/W3161044795","https://openalex.org/W2316677620","https://openalex.org/W4400784869","https://openalex.org/W2021130434","https://openalex.org/W7099888683"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2020-07-29T00:00:00"}