{"id":"https://openalex.org/W2299414019","doi":"https://doi.org/10.1007/s11011-015-9780-z","title":"Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism","display_name":"Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism","publication_year":2015,"publication_date":"2015-12-21","ids":{"openalex":"https://openalex.org/W2299414019","doi":"https://doi.org/10.1007/s11011-015-9780-z","mag":"2299414019","pmid":"https://pubmed.ncbi.nlm.nih.gov/26686676"},"language":"en","primary_location":{"id":"doi:10.1007/s11011-015-9780-z","doi":"https://doi.org/10.1007/s11011-015-9780-z","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11011-015-9780-z","pdf_url":null,"source":{"id":"https://openalex.org/S31409034","display_name":"Metabolic Brain Disease","issn_l":"0885-7490","issn":["0885-7490","1573-7365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Metabolic Brain Disease","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/A5014501389","display_name":"Alba Trist\u00e1n\u2010Noguero","orcid":"https://orcid.org/0000-0002-0170-9762","observed_orcids":["https://orcid.org/0000-0002-0170-9762"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alba Trist\u00e1n-Noguero","raw_affiliation_strings":["Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain","Laboratory of Synaptic Metabolism, Fundaci\u00f3 Sant Joan de D\u00e9u (FSJD), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]},{"raw_affiliation_string":"Laboratory of Synaptic Metabolism, Fundaci\u00f3 Sant Joan de D\u00e9u (FSJD), Barcelona, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047428205","display_name":"H\u00e9ctor D\u00edez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"H\u00e9ctor D\u00edez","raw_affiliation_strings":["Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain","Laboratory of Synaptic Metabolism, Fundaci\u00f3 Sant Joan de D\u00e9u (FSJD), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]},{"raw_affiliation_string":"Laboratory of Synaptic Metabolism, Fundaci\u00f3 Sant Joan de D\u00e9u (FSJD), Barcelona, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085013391","display_name":"Cristina Jou","orcid":"https://orcid.org/0000-0002-2223-7880","observed_orcids":["https://orcid.org/0000-0002-2223-7880"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Cristina Jou","raw_affiliation_strings":["Department of Pathology, Hospital Sant Joan de D\u00e9u (HSJD), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Hospital Sant Joan de D\u00e9u (HSJD), Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111916726","display_name":"Merc\u00e8 Pineda","orcid":"https://orcid.org/0000-0002-6817-9807","observed_orcids":["https://orcid.org/0000-0002-6817-9807"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Merc\u00e8 Pineda","raw_affiliation_strings":["CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063250119","display_name":"A\u00edda Ormaz\u00e1bal","orcid":"https://orcid.org/0000-0001-6572-2467","observed_orcids":["https://orcid.org/0000-0001-6572-2467"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Aida Ormaz\u00e1bal","raw_affiliation_strings":["CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","Department of Clinical Biochemistry, Hospital Sant Joan de D\u00e9u (HSJD), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Clinical Biochemistry, Hospital Sant Joan de D\u00e9u (HSJD), Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035342216","display_name":"Aurora S\u00e1nchez","orcid":"https://orcid.org/0000-0003-1167-1451","observed_orcids":["https://orcid.org/0000-0003-1167-1451"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210115097","display_name":"Hospital Cl\u00ednic de Barcelona","ror":"https://ror.org/02a2kzf50","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210115097"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210115097","https://openalex.org/I4210160192","https://openalex.org/I4387153040","https://openalex.org/I4403928279"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Aurora S\u00e1nchez","raw_affiliation_strings":["CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular and IDIBAPS, Hospital Cl\u00ednic, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular and IDIBAPS, Hospital Cl\u00ednic, Barcelona, Spain","institution_ids":["https://openalex.org/I4210115097","https://openalex.org/I4210160192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034622775","display_name":"Rafael Artuch","orcid":"https://orcid.org/0000-0002-3422-9685","observed_orcids":["https://orcid.org/0000-0002-3422-9685"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Rafael Artuch","raw_affiliation_strings":["CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","Department of Clinical Biochemistry, Hospital Sant Joan de D\u00e9u (HSJD), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Clinical Biochemistry, Hospital Sant Joan de D\u00e9u (HSJD), Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5077551140","display_name":"\u00c0ngels Garc\u00eda\u2010Cazorla","orcid":"https://orcid.org/0000-0001-9853-688X","observed_orcids":["https://orcid.org/0000-0001-9853-688X"]},"institutions":[{"id":"https://openalex.org/I1307323311","display_name":"Hospital Sant Joan de D\u00e9u Barcelona","ror":"https://ror.org/001jx2139","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I1307323311"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"\u00c0ngels Garcia-Cazorla","raw_affiliation_strings":["CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain. agarcia@hsjdbcn.org","Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain. agarcia@hsjdbcn.org","Laboratory of Synaptic Metabolism, Fundaci\u00f3 Sant Joan de D\u00e9u (FSJD), Barcelona, Spain. agarcia@hsjdbcn.org","Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain. agarcia@hsjdbcn.org","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain. agarcia@hsjdbcn.org","institution_ids":["https://openalex.org/I1307323311"]},{"raw_affiliation_string":"Laboratory of Synaptic Metabolism, Fundaci\u00f3 Sant Joan de D\u00e9u (FSJD), Barcelona, Spain. agarcia@hsjdbcn.org","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology, Hospital Sant Joan de D\u00e9u (HSJD), Passeig Sant Joan de D\u00e9u, 2, Esplugues, 08950,, Barcelona, Spain","institution_ids":["https://openalex.org/I1307323311"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5077551140"],"corresponding_institution_ids":["https://openalex.org/I1307323311","https://openalex.org/I2801357902","https://openalex.org/I4210111366"],"apc_list":{"value":4590,"currency":"USD","value_usd":4590},"apc_paid":null,"fwci":0.2194,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.45102594,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"31","issue":"3","first_page":"705","last_page":"709"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9326000213623047,"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":0.9326000213623047,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.0478999987244606,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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":0.010700000450015068,"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/tyrosine-hydroxylase-deficiency","display_name":"tyrosine hydroxylase deficiency","score":0.996999979019165},{"id":"https://openalex.org/keywords/fetal-brain","display_name":"fetal brain","score":0.7990000247955322},{"id":"https://openalex.org/keywords/vmat1","display_name":"VMAT1","score":0.7940000295639038},{"id":"https://openalex.org/keywords/vmat2","display_name":"vesicular monoamine transporter 2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/dopamine-d2-receptor","display_name":"dopamine D2 receptor","score":0.8529999852180481},{"id":"https://openalex.org/keywords/nmda-receptor","display_name":"NMDA receptor","score":0.7829999923706055},{"id":"https://openalex.org/keywords/calbindin","display_name":"calbindin","score":0.8069999814033508},{"id":"https://openalex.org/keywords/synaptic-proteins","display_name":"synaptic proteins","score":0.6029999852180481},{"id":"https://openalex.org/keywords/neurodevelopmental-markers","display_name":"neurodevelopmental markers","score":0.8989999890327454},{"id":"https://openalex.org/keywords/dopaminergic-neurons","display_name":"dopaminergic neurons","score":0.6679999828338623},{"id":"https://openalex.org/keywords/levodopa-response","display_name":"levodopa response","score":0.6489999890327454},{"id":"https://openalex.org/keywords/miscarriage","display_name":"miscarriage","score":0.6840000152587891}],"concepts":[{"id":"https://openalex.org/C159167319","wikidata":"https://www.wikidata.org/wiki/Q420766","display_name":"Tyrosine hydroxylase","level":3,"score":0.7212581634521484},{"id":"https://openalex.org/C137183658","wikidata":"https://www.wikidata.org/wiki/Q461076","display_name":"Dopaminergic","level":3,"score":0.6178659796714783},{"id":"https://openalex.org/C513476851","wikidata":"https://www.wikidata.org/wiki/Q170304","display_name":"Dopamine","level":2,"score":0.612575888633728},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5746253132820129},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.50826495885849},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5018341541290283},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4919109344482422},{"id":"https://openalex.org/C26265296","wikidata":"https://www.wikidata.org/wiki/Q408713","display_name":"Calbindin","level":3,"score":0.4469699263572693},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.35916590690612793},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2807629108428955},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.17950567603111267},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12428107857704163},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.12296894192695618}],"mesh":[{"descriptor_ui":"D000022","descriptor_name":"Abortion, Spontaneous","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004298","descriptor_name":"Dopamine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D014446","descriptor_name":"Tyrosine 3-Monooxygenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014446","descriptor_name":"Tyrosine 3-Monooxygenase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D050493","descriptor_name":"Vesicular Monoamine Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050493","descriptor_name":"Vesicular Monoamine Transport Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s11011-015-9780-z","doi":"https://doi.org/10.1007/s11011-015-9780-z","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11011-015-9780-z","pdf_url":null,"source":{"id":"https://openalex.org/S31409034","display_name":"Metabolic Brain Disease","issn_l":"0885-7490","issn":["0885-7490","1573-7365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Metabolic Brain Disease","raw_type":"journal-article"},{"id":"pmid:26686676","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26686676","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":"Metabolic brain disease","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1605045296","display_name":null,"funder_award_id":"PS09/01132 ISCIII-FEDER","funder_id":"https://openalex.org/F4320334923","funder_display_name":"Instituto de Salud Carlos III"}],"funders":[{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1971764800","https://openalex.org/W1985378500","https://openalex.org/W1987492515","https://openalex.org/W1992179259","https://openalex.org/W2013852351","https://openalex.org/W2036857255","https://openalex.org/W2054990893","https://openalex.org/W2056054688","https://openalex.org/W2074551097","https://openalex.org/W2084562439","https://openalex.org/W2134880704","https://openalex.org/W2135688455","https://openalex.org/W2139495058","https://openalex.org/W2153399487","https://openalex.org/W2186278874"],"related_works":["https://openalex.org/W2134880704","https://openalex.org/W7220696744","https://openalex.org/W2167890207","https://openalex.org/W2335544293","https://openalex.org/W7006357786","https://openalex.org/W2563031192","https://openalex.org/W3049496125","https://openalex.org/W2081011461","https://openalex.org/W2324116367","https://openalex.org/W3023003145"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}