{"id":"https://openalex.org/W2319284302","doi":"https://doi.org/10.1016/s1090-3798(13)70445-8","title":"P266 \u2013 2077 AADC deficiency with oculogyric crises as the most specific presenting symptom","display_name":"P266 \u2013 2077 AADC deficiency with oculogyric crises as the most specific presenting symptom","publication_year":2013,"publication_date":"2013-09-01","ids":{"openalex":"https://openalex.org/W2319284302","doi":"https://doi.org/10.1016/s1090-3798(13)70445-8","mag":"2319284302"},"language":"en","primary_location":{"id":"doi:10.1016/s1090-3798(13)70445-8","doi":"https://doi.org/10.1016/s1090-3798(13)70445-8","is_oa":false,"landing_page_url":"http://doi.org/10.1016/s1090-3798(13)70445-8","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":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"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/A5029987700","display_name":"Gwendolyn de Bruyn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G de Bruyn","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009424933","display_name":"Luc R\u00e9gal","orcid":"https://orcid.org/0000-0001-8231-5767","observed_orcids":["https://orcid.org/0000-0001-8231-5767"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L R\u00e9gal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"L Wouters","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Wouters","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019146143","display_name":"Katrien Jansen","orcid":"https://orcid.org/0000-0002-5503-529X","observed_orcids":["https://orcid.org/0000-0002-5503-529X","https://orcid.org/0000-0002-8806-0707"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Jansen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113773596","display_name":"Gunnar Buyse","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Buyse","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5084704668","display_name":"Lieven G. Lagae","orcid":"https://orcid.org/0000-0002-7118-0139","observed_orcids":["https://orcid.org/0000-0002-7118-0139","https://orcid.org/0000-0002-1177-4680"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Lagae","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2940,"currency":"USD","value_usd":2940},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":null,"first_page":"S126","last_page":"S127"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9824000000953674,"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":0.9824000000953674,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.006399999838322401,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.003599999938160181,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/aadc-deficiency","display_name":"AADC deficiency","score":0.8970000147819519},{"id":"https://openalex.org/keywords/oculogyric-crisis","display_name":"oculogyric crisis","score":0.890999972820282},{"id":"https://openalex.org/keywords/aromatic-l-amino-acid-decarboxylase-deficiency","display_name":"aromatic L-amino acid decarboxylase deficiency","score":0.7950000166893005},{"id":"https://openalex.org/keywords/presenting-symptoms","display_name":"presenting symptoms","score":0.4950000047683716},{"id":"https://openalex.org/keywords/ocular-motility-disorders","display_name":"eye movement disorders","score":0.38199999928474426}],"concepts":[{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4784122407436371},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.4442904591560364},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.4429715871810913},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4177309274673462}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s1090-3798(13)70445-8","doi":"https://doi.org/10.1016/s1090-3798(13)70445-8","is_oa":false,"landing_page_url":"http://doi.org/10.1016/s1090-3798(13)70445-8","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"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2906050193","https://openalex.org/W2149382088","https://openalex.org/W3091134011","https://openalex.org/W2038017324","https://openalex.org/W1494794866","https://openalex.org/W2341637955","https://openalex.org/W2282870930","https://openalex.org/W3091227408","https://openalex.org/W3207285197","https://openalex.org/W2020346753"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}