{"id":"https://openalex.org/W2602118783","doi":"https://doi.org/10.1016/j.ejpn.2017.03.004","title":"Mitochondrial diagnosis revisited","display_name":"Mitochondrial diagnosis revisited","publication_year":2017,"publication_date":"2017-03-24","ids":{"openalex":"https://openalex.org/W2602118783","doi":"https://doi.org/10.1016/j.ejpn.2017.03.004","mag":"2602118783","pmid":"https://pubmed.ncbi.nlm.nih.gov/28389061"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejpn.2017.03.004","doi":"https://doi.org/10.1016/j.ejpn.2017.03.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejpn.2017.03.004","pdf_url":null,"source":{"id":"https://openalex.org/S30097070","display_name":"European Journal of Paediatric Neurology","issn_l":"1090-3798","issn":["1090-3798","1532-2130"],"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-100","russia-white-list-1","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 Paediatric Neurology","raw_type":"journal-article"},"volume":null,"type":"article","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/A5010446532","display_name":"Niamh K Lagan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019103622","display_name":"Temple Street Children's University Hospital","ror":"https://ror.org/0527gjc91","country_code":"IE","type":"healthcare","lineage":["https://openalex.org/I3019103622"]}],"countries":["IE"],"is_corresponding":true,"raw_author_name":"N.C. Lagan","raw_affiliation_strings":["Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland. Electronic address: lagann@tcd.ie","Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland. Electronic address: lagann@tcd.ie","institution_ids":["https://openalex.org/I3019103622"]},{"raw_affiliation_string":"Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland","institution_ids":["https://openalex.org/I3019103622"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018627791","display_name":"Kathleen Mary Gorman","orcid":"https://orcid.org/0000-0002-5488-1507","observed_orcids":["https://orcid.org/0000-0002-5488-1507"]},"institutions":[{"id":"https://openalex.org/I3019103622","display_name":"Temple Street Children's University Hospital","ror":"https://ror.org/0527gjc91","country_code":"IE","type":"healthcare","lineage":["https://openalex.org/I3019103622"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"K.M. Gorman","raw_affiliation_strings":["Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland","institution_ids":["https://openalex.org/I3019103622"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040819800","display_name":"Marissa D. King","orcid":"https://orcid.org/0009-0000-6590-3567","observed_orcids":["https://orcid.org/0009-0000-6590-3567"]},"institutions":[{"id":"https://openalex.org/I100930933","display_name":"University College Dublin","ror":"https://ror.org/05m7pjf47","country_code":"IE","type":"education","lineage":["https://openalex.org/I100930933"]},{"id":"https://openalex.org/I3019103622","display_name":"Temple Street Children's University Hospital","ror":"https://ror.org/0527gjc91","country_code":"IE","type":"healthcare","lineage":["https://openalex.org/I3019103622"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"M.D. King","raw_affiliation_strings":["Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland","Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland","Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland","institution_ids":["https://openalex.org/I100930933","https://openalex.org/I3019103622"]},{"raw_affiliation_string":"Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland","institution_ids":["https://openalex.org/I100930933"]},{"raw_affiliation_string":"Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland","institution_ids":["https://openalex.org/I3019103622"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5010446532"],"corresponding_institution_ids":["https://openalex.org/I3019103622"],"apc_list":{"value":2940,"currency":"USD","value_usd":2940},"apc_paid":null,"fwci":0.6835,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.6501318,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"21","issue":"4","first_page":"685","last_page":"686"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.5073000192642212,"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":0.5073000192642212,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.48339998722076416,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.0032999999821186066,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.9200000166893005},{"id":"https://openalex.org/keywords/neonatal-seizures","display_name":"neonatal seizures","score":0.7860000133514404},{"id":"https://openalex.org/keywords/limb-malformations","display_name":"limb malformations","score":0.8379999995231628},{"id":"https://openalex.org/keywords/drug-resistant-epilepsy","display_name":"drug-resistant epilepsy","score":0.7760000228881836},{"id":"https://openalex.org/keywords/pigmentary-retinopathy","display_name":"pigmentary retinopathy","score":0.7689999938011169},{"id":"https://openalex.org/keywords/hepatomegaly","display_name":"hepatomegaly","score":0.7739999890327454},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.7269999980926514},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.5820000171661377},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.6430000066757202}],"concepts":[{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.7747260332107544},{"id":"https://openalex.org/C3020761558","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Mitochondrial respiratory chain","level":3,"score":0.6142265796661377},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6040734648704529},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5896824598312378},{"id":"https://openalex.org/C3020377403","wikidata":"https://www.wikidata.org/wiki/Q211016","display_name":"Respiratory chain","level":3,"score":0.5587431788444519},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.5354264974594116},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.5314929485321045},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.26640069484710693},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18038496375083923},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1646956205368042},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1462298333644867},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.13528725504875183},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.12269175052642822}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ejpn.2017.03.004","doi":"https://doi.org/10.1016/j.ejpn.2017.03.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejpn.2017.03.004","pdf_url":null,"source":{"id":"https://openalex.org/S30097070","display_name":"European Journal of Paediatric Neurology","issn_l":"1090-3798","issn":["1090-3798","1532-2130"],"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-100","russia-white-list-1","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 Paediatric Neurology","raw_type":"journal-article"},{"id":"pmid:28389061","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28389061","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 paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":5,"referenced_works":["https://openalex.org/W1994849424","https://openalex.org/W2011256111","https://openalex.org/W2167037478","https://openalex.org/W2230677050","https://openalex.org/W2415622914"],"related_works":["https://openalex.org/W1994849424","https://openalex.org/W7063371328","https://openalex.org/W1983351653","https://openalex.org/W6999236258","https://openalex.org/W2009825395","https://openalex.org/W2010803647","https://openalex.org/W2053095663","https://openalex.org/W7054129706","https://openalex.org/W2036216403","https://openalex.org/W6978996977"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2017-04-07T00:00:00"}