{"id":"https://openalex.org/W119876498","doi":"https://doi.org/10.1016/b978-0-444-59565-2.00045-9","title":"Inborn errors of copper metabolism","display_name":"Inborn errors of copper metabolism","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W119876498","doi":"https://doi.org/10.1016/b978-0-444-59565-2.00045-9","mag":"119876498","pmid":"https://pubmed.ncbi.nlm.nih.gov/23622398","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4214864"},"language":"en","primary_location":{"id":"doi:10.1016/b978-0-444-59565-2.00045-9","doi":"https://doi.org/10.1016/b978-0-444-59565-2.00045-9","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-444-59565-2.00045-9","pdf_url":null,"source":{"id":"https://openalex.org/S113297301","display_name":"Handbook of clinical neurology","issn_l":"0072-9752","issn":["0072-9752","2212-4152"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","medline","norway-1"],"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":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Handbook of Clinical Neurology","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4244157264","display_name":"Pediatric Neurology Part III"},"type":"book-chapter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4214864","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5009062209","display_name":"Stephen Gerard Kaler","orcid":"https://orcid.org/0000-0002-7522-926X","observed_orcids":["https://orcid.org/0000-0002-7522-926X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210144228","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Stephen G. Kaler","raw_affiliation_strings":["Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA. Electronic address: kalers@mail.nih.gov","Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA. Electronic address: kalers@mail.nih.gov","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]},{"raw_affiliation_string":"Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5009062209"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210144228"],"apc_list":null,"apc_paid":null,"fwci":22.2787,"has_fulltext":false,"cited_by_count":116,"citation_normalized_percentile":{"value":0.99259259,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"113","issue":null,"first_page":"1745","last_page":"1754"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":0.9868000149726868,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":0.9868000149726868,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.005900000222027302,"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/T13481","display_name":"Neurological diseases and metabolism","score":0.002400000113993883,"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/copper-metabolism-disorder","display_name":"copper metabolism disorder","score":0.8360000252723694},{"id":"https://openalex.org/keywords/copper-homeostasis","display_name":"copper homeostasis","score":0.8169999718666077},{"id":"https://openalex.org/keywords/atp7a","display_name":"ATP7A","score":0.9810000061988831},{"id":"https://openalex.org/keywords/atp7b","display_name":"ATP7B","score":1.0},{"id":"https://openalex.org/keywords/menkes-disease","display_name":"Menkes disease","score":0.9860000014305115},{"id":"https://openalex.org/keywords/occipital-horn-syndrome","display_name":"occipital horn syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/wilson-s-disease","display_name":"Wilson's disease","score":0.949999988079071},{"id":"https://openalex.org/keywords/copper-chelation","display_name":"copper chelation","score":0.9110000133514404},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.7490000128746033},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.6110000014305115},{"id":"https://openalex.org/keywords/x-linked-disorders","display_name":"X-linked disorders","score":0.7770000100135803}],"concepts":[{"id":"https://openalex.org/C2779736553","wikidata":"https://www.wikidata.org/wiki/Q14884608","display_name":"ATP7A","level":4,"score":0.9704974889755249},{"id":"https://openalex.org/C2777581567","wikidata":"https://www.wikidata.org/wiki/Q639203","display_name":"Menkes disease","level":4,"score":0.8390564322471619},{"id":"https://openalex.org/C2777106986","wikidata":"https://www.wikidata.org/wiki/Q1495005","display_name":"Copper deficiency","level":3,"score":0.6934528946876526},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4682256877422333},{"id":"https://openalex.org/C2779543035","wikidata":"https://www.wikidata.org/wiki/Q620639","display_name":"Dysautonomia","level":3,"score":0.42892590165138245},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.4261399209499359},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37562036514282227},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35925614833831787},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3505503535270691},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.33746662735939026},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3366231918334961},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3362748622894287},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1728619635105133},{"id":"https://openalex.org/C2991729501","wikidata":"https://www.wikidata.org/wiki/Q753","display_name":"Copper metabolism","level":3,"score":0.12821528315544128},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11294808983802795},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.08651262521743774},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C544778455","wikidata":"https://www.wikidata.org/wiki/Q753","display_name":"Copper","level":2,"score":0.0},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D002614","descriptor_name":"Chelating Agents","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003300","descriptor_name":"Copper","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D003483","descriptor_name":"Cutis Laxa","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D003483","descriptor_name":"Cutis Laxa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003483","descriptor_name":"Cutis Laxa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004535","descriptor_name":"Ehlers-Danlos Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007706","descriptor_name":"Menkes Kinky Hair Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D007706","descriptor_name":"Menkes Kinky Hair Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007706","descriptor_name":"Menkes Kinky Hair Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010396","descriptor_name":"Penicillamine","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/b978-0-444-59565-2.00045-9","doi":"https://doi.org/10.1016/b978-0-444-59565-2.00045-9","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-444-59565-2.00045-9","pdf_url":null,"source":{"id":"https://openalex.org/S113297301","display_name":"Handbook of clinical neurology","issn_l":"0072-9752","issn":["0072-9752","2212-4152"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","ki-jl-1","medline","norway-1"],"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":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Handbook of Clinical Neurology","raw_type":"book-chapter"},{"id":"pmid:23622398","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23622398","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":"Handbook of clinical neurology","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3179559","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4214864","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4214864","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4214864","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Handb Clin Neurol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:3179559","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4214864","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2002857317","display_name":" Inherited Disorders of Copper Transport","funder_award_id":"ZIAHD008768","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W68547151","https://openalex.org/W241640198","https://openalex.org/W1491181532","https://openalex.org/W1963720743","https://openalex.org/W1967929341","https://openalex.org/W1968520975","https://openalex.org/W1973614470","https://openalex.org/W1975431437","https://openalex.org/W2002023508","https://openalex.org/W2004040387","https://openalex.org/W2009148333","https://openalex.org/W2010103693","https://openalex.org/W2010832703","https://openalex.org/W2042086416","https://openalex.org/W2047291591","https://openalex.org/W2048662318","https://openalex.org/W2052062358","https://openalex.org/W2057555797","https://openalex.org/W2061289957","https://openalex.org/W2072383565","https://openalex.org/W2084931895","https://openalex.org/W2091391415","https://openalex.org/W2091526866","https://openalex.org/W2111522868","https://openalex.org/W2124881162","https://openalex.org/W2125268191","https://openalex.org/W2129750102","https://openalex.org/W2132544275","https://openalex.org/W2157647186","https://openalex.org/W2163883123","https://openalex.org/W2170057620","https://openalex.org/W2171604950","https://openalex.org/W4298312816","https://openalex.org/W4300472741","https://openalex.org/W6609348383","https://openalex.org/W6776595993"],"related_works":["https://openalex.org/W2072383565","https://openalex.org/W3021717431","https://openalex.org/W2089646159","https://openalex.org/W4211147033","https://openalex.org/W2397319401","https://openalex.org/W1003703314","https://openalex.org/W4390672459","https://openalex.org/W2161313420","https://openalex.org/W2246131228","https://openalex.org/W2782590128"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":11},{"year":2023,"cited_by_count":13},{"year":2022,"cited_by_count":17},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":12},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":10},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
