{"id":"https://openalex.org/W2017156453","doi":"https://doi.org/10.1016/j.biochi.2012.10.023","title":"Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions","display_name":"Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions","publication_year":2012,"publication_date":"2012-11-11","ids":{"openalex":"https://openalex.org/W2017156453","doi":"https://doi.org/10.1016/j.biochi.2012.10.023","mag":"2017156453","pmid":"https://pubmed.ncbi.nlm.nih.gov/23151389"},"language":"en","primary_location":{"id":"doi:10.1016/j.biochi.2012.10.023","doi":"https://doi.org/10.1016/j.biochi.2012.10.023","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.biochi.2012.10.023","pdf_url":null,"source":{"id":"https://openalex.org/S75247133","display_name":"Biochimie","issn_l":"0037-9042","issn":["0037-9042","0300-9084","1638-6183"],"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-100","russia-white-list-2"],"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":"Biochimie","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/A5061551032","display_name":"Morris H. Baslow","orcid":"https://orcid.org/0000-0003-0087-8043","observed_orcids":["https://orcid.org/0000-0003-0087-8043"]},"institutions":[{"id":"https://openalex.org/I125043107","display_name":"Nathan Kline Institute for Psychiatric Research","ror":"https://ror.org/01s434164","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I125043107"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"M.H. Baslow","raw_affiliation_strings":["Nathan S. Kline Institute for Psychiatric Research, 140 Old Orangeburg Road, Orangeburg, NY 10962, USA. baslow@nki.rfmh.org","Nathan S Kline Institute for Psychiatric Research, 140 Old Orangeburg Road, Orangeburg, NY 10962, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nathan S. Kline Institute for Psychiatric Research, 140 Old Orangeburg Road, Orangeburg, NY 10962, USA. baslow@nki.rfmh.org","institution_ids":["https://openalex.org/I125043107"]},{"raw_affiliation_string":"Nathan S Kline Institute for Psychiatric Research, 140 Old Orangeburg Road, Orangeburg, NY 10962, USA","institution_ids":["https://openalex.org/I125043107"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110030366","display_name":"David N. Guilfoyle","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D.N. Guilfoyle","raw_affiliation_strings":["Center for Advanced Brain Imaging, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Advanced Brain Imaging, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5061551032"],"corresponding_institution_ids":["https://openalex.org/I125043107"],"apc_list":{"value":3110,"currency":"USD","value_usd":3110},"apc_paid":null,"fwci":2.2591,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.85335085,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"95","issue":"4","first_page":"946","last_page":"956"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9878000020980835,"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":0.9878000020980835,"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.007400000002235174,"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"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.0012000000569969416,"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/canavan-disease","display_name":"Canavan disease","score":1.0},{"id":"https://openalex.org/keywords/aspartoacylase-deficiency","display_name":"aspartoacylase deficiency","score":0.9020000100135803},{"id":"https://openalex.org/keywords/n-acetylaspartate","display_name":"N-acetylaspartate","score":0.8970000147819519},{"id":"https://openalex.org/keywords/oligodendrocytes","display_name":"oligodendrocytes","score":0.9070000052452087},{"id":"https://openalex.org/keywords/myelination","display_name":"myelination","score":0.8740000128746033},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.828000009059906},{"id":"https://openalex.org/keywords/clinical-intervention","display_name":"clinical intervention","score":0.5889999866485596},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.45399999618530273}],"concepts":[{"id":"https://openalex.org/C2776100374","wikidata":"https://www.wikidata.org/wiki/Q1821559","display_name":"Leukodystrophy","level":3,"score":0.6914118528366089},{"id":"https://openalex.org/C2778609137","wikidata":"https://www.wikidata.org/wiki/Q105790271","display_name":"Myelin","level":3,"score":0.48919370770454407},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.4796219766139984},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.4682256877422333},{"id":"https://openalex.org/C61174792","wikidata":"https://www.wikidata.org/wiki/Q420510","display_name":"Glutamate receptor","level":3,"score":0.4228001832962036},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.401089072227478},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.38132262229919434},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.35716956853866577},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3396066427230835},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.25745779275894165},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2517942786216736},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.2218996286392212},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000085","descriptor_name":"Acetates","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001224","descriptor_name":"Aspartic Acid","qualifier_ui":"Q000031","qualifier_name":"analogs & derivatives","is_major_topic":false},{"descriptor_ui":"D001224","descriptor_name":"Aspartic Acid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009186","descriptor_name":"Myelin Sheath","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009995","descriptor_name":"Osmosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014867","descriptor_name":"Water","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014882","descriptor_name":"Water-Electrolyte Balance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017825","descriptor_name":"Canavan Disease","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D017825","descriptor_name":"Canavan Disease","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D017825","descriptor_name":"Canavan Disease","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D017825","descriptor_name":"Canavan Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D045604","descriptor_name":"Extracellular Fluid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.biochi.2012.10.023","doi":"https://doi.org/10.1016/j.biochi.2012.10.023","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.biochi.2012.10.023","pdf_url":null,"source":{"id":"https://openalex.org/S75247133","display_name":"Biochimie","issn_l":"0037-9042","issn":["0037-9042","0300-9084","1638-6183"],"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-100","russia-white-list-2"],"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":"Biochimie","raw_type":"journal-article"},{"id":"pmid:23151389","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23151389","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":"Biochimie","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":84,"referenced_works":["https://openalex.org/W78266864","https://openalex.org/W276581401","https://openalex.org/W291954379","https://openalex.org/W1557913677","https://openalex.org/W1598043763","https://openalex.org/W1831871273","https://openalex.org/W1968533993","https://openalex.org/W1973665127","https://openalex.org/W1973698599","https://openalex.org/W1974906863","https://openalex.org/W1976397566","https://openalex.org/W1982557207","https://openalex.org/W1984629970","https://openalex.org/W1984763197","https://openalex.org/W1986474287","https://openalex.org/W1990505846","https://openalex.org/W1992592286","https://openalex.org/W1993298162","https://openalex.org/W1994486944","https://openalex.org/W1995419987","https://openalex.org/W1995474475","https://openalex.org/W1997375580","https://openalex.org/W1997747456","https://openalex.org/W1999863250","https://openalex.org/W2001093549","https://openalex.org/W2006369763","https://openalex.org/W2016777902","https://openalex.org/W2022420750","https://openalex.org/W2022426430","https://openalex.org/W2022438502","https://openalex.org/W2025595039","https://openalex.org/W2026047205","https://openalex.org/W2032078075","https://openalex.org/W2035343079","https://openalex.org/W2035432210","https://openalex.org/W2041913525","https://openalex.org/W2050553360","https://openalex.org/W2051222535","https://openalex.org/W2052044684","https://openalex.org/W2053740594","https://openalex.org/W2055212957","https://openalex.org/W2057225650","https://openalex.org/W2064517802","https://openalex.org/W2069533652","https://openalex.org/W2069702443","https://openalex.org/W2074434246","https://openalex.org/W2075121325","https://openalex.org/W2075409641","https://openalex.org/W2076632040","https://openalex.org/W2077555067","https://openalex.org/W2079900827","https://openalex.org/W2080971858","https://openalex.org/W2085390071","https://openalex.org/W2086188422","https://openalex.org/W2093612111","https://openalex.org/W2098237962","https://openalex.org/W2098421367","https://openalex.org/W2102118295","https://openalex.org/W2119734225","https://openalex.org/W2122674784","https://openalex.org/W2123867171","https://openalex.org/W2125850770","https://openalex.org/W2126698884","https://openalex.org/W2127614272","https://openalex.org/W2128592934","https://openalex.org/W2132545213","https://openalex.org/W2134330663","https://openalex.org/W2137489081","https://openalex.org/W2142660666","https://openalex.org/W2149342011","https://openalex.org/W2151201474","https://openalex.org/W2162948221","https://openalex.org/W2206966795","https://openalex.org/W2322691475","https://openalex.org/W2325809628","https://openalex.org/W2335702356","https://openalex.org/W2395484933","https://openalex.org/W2479413981","https://openalex.org/W3158658314","https://openalex.org/W4211058056","https://openalex.org/W4230860273","https://openalex.org/W4250919708","https://openalex.org/W4317564098","https://openalex.org/W6721353258"],"related_works":["https://openalex.org/W2608865554","https://openalex.org/W4281692218","https://openalex.org/W2508754743","https://openalex.org/W1992592286","https://openalex.org/W2092952664","https://openalex.org/W4297316303","https://openalex.org/W6987512460","https://openalex.org/W2605027429","https://openalex.org/W2187995629","https://openalex.org/W2464917230"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":10},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}