{"id":"https://openalex.org/W4234006323","doi":"https://doi.org/10.1016/j.ajhg.2012.01.015","title":"Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin","display_name":"Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin","publication_year":2012,"publication_date":"2012-02-01","ids":{"openalex":"https://openalex.org/W4234006323","doi":"https://doi.org/10.1016/j.ajhg.2012.01.015"},"language":"en","primary_location":{"id":"doi:10.1016/j.ajhg.2012.01.015","doi":"https://doi.org/10.1016/j.ajhg.2012.01.015","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2012.01.015","pdf_url":"http://www.cell.com/article/S0002929712000493/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.cell.com/article/S0002929712000493/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025723790","display_name":"Peter Huppke","orcid":"https://orcid.org/0009-0004-1183-4905","observed_orcids":["https://orcid.org/0009-0004-1183-4905"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Peter Huppke","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Cornelia Brendel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cornelia Brendel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021264890","display_name":"Vera M. Kalscheuer","orcid":"https://orcid.org/0000-0001-6898-3259","observed_orcids":["https://orcid.org/0000-0001-6898-3259"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vera Kalscheuer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110942562","display_name":"Georg Christoph Korenke","orcid":"https://orcid.org/0000-0003-4331-2453","observed_orcids":["https://orcid.org/0000-0003-4331-2453"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Georg\u00a0Christoph Korenke","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108083092","display_name":"Iris Marquardt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Iris Marquardt","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059837276","display_name":"Peter Freisinger","orcid":"https://orcid.org/0000-0003-1675-9372","observed_orcids":["https://orcid.org/0000-0003-1675-9372"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Peter Freisinger","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045791231","display_name":"John Christodoulou","orcid":"https://orcid.org/0000-0002-8431-0641","observed_orcids":["https://orcid.org/0000-0002-8431-0641"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John Christodoulou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111750502","display_name":"Merle Hillebrand","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Merle Hillebrand","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023742685","display_name":"Ga\u00eble Pitelet","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gaele Pitelet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075241712","display_name":"Callum J. Wilson","orcid":"https://orcid.org/0000-0003-2034-767X","observed_orcids":["https://orcid.org/0000-0003-2034-767X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Callum Wilson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086251290","display_name":"Ursula Gruber\u2010Sedlmayr","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ursula Gruber-Sedlmayr","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010530881","display_name":"Reinhard Ullmann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Reinhard Ullmann","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105842556","display_name":"Stefan Haas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stefan Haas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033572261","display_name":"Orly N Elpeleg","orcid":"https://orcid.org/0000-0002-5041-7272","observed_orcids":["https://orcid.org/0000-0002-5041-7272"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Orly Elpeleg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059195919","display_name":"Gudrun N\u00fcrnberg","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gudrun N\u00fcrnberg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078248666","display_name":"Peter N\u00fcrnberg","orcid":"https://orcid.org/0000-0002-7228-428X","observed_orcids":["https://orcid.org/0000-0002-7228-428X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Peter N\u00fcrnberg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055202682","display_name":"Shzeena Dad","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shzeena Dad","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000627885","display_name":"Lisbeth Birk M\u00f8ller","orcid":"https://orcid.org/0000-0002-9524-4301","observed_orcids":["https://orcid.org/0000-0002-9524-4301"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lisbeth Birk\u00a0M\u00f8ller","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stephen\u00a0G. Kaler","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5079537507","display_name":"Jutta G\u00e4rtner","orcid":"https://orcid.org/0000-0003-4108-7109","observed_orcids":["https://orcid.org/0000-0003-4108-7109"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jutta G\u00e4rtner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5025723790"],"corresponding_institution_ids":[],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.52461935,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"90","issue":"2","first_page":"378","last_page":"378"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":0.7573000192642212,"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":0.7573000192642212,"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":0.11469999700784683,"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":0.034299999475479126,"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-transport","display_name":"copper transport","score":0.5709999799728394},{"id":"https://openalex.org/keywords/congenital-cataract","display_name":"congenital cataract","score":0.8489999771118164},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.9190000295639038},{"id":"https://openalex.org/keywords/ceruloplasmin","display_name":"ceruloplasmin","score":0.9259999990463257},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.7689999938011169},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.7839999794960022},{"id":"https://openalex.org/keywords/cerebellar-hypoplasia","display_name":"cerebellar hypoplasia","score":0.9900000095367432},{"id":"https://openalex.org/keywords/hypomyelination","display_name":"hypomyelination","score":0.9829999804496765},{"id":"https://openalex.org/keywords/menkes-disease","display_name":"Menkes disease","score":0.6349999904632568},{"id":"https://openalex.org/keywords/wilson-s-disease","display_name":"Wilson's disease","score":0.9070000052452087},{"id":"https://openalex.org/keywords/aceruloplasminemia","display_name":"aceruloplasminemia","score":0.996999979019165}],"concepts":[{"id":"https://openalex.org/C28452662","wikidata":"https://www.wikidata.org/wiki/Q422752","display_name":"Ceruloplasmin","level":2,"score":0.8806630373001099},{"id":"https://openalex.org/C2780225610","wikidata":"https://www.wikidata.org/wiki/Q127724","display_name":"Cataracts","level":2,"score":0.6994679570198059},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.6604478359222412},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4895342290401459},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.4737206995487213},{"id":"https://openalex.org/C2781371907","wikidata":"https://www.wikidata.org/wiki/Q5160434","display_name":"Congenital hearing loss","level":4,"score":0.4525127708911896},{"id":"https://openalex.org/C2910862020","wikidata":"https://www.wikidata.org/wiki/Q3454555","display_name":"Autosomal recessive inheritance","level":3,"score":0.41176837682724},{"id":"https://openalex.org/C2777581567","wikidata":"https://www.wikidata.org/wiki/Q639203","display_name":"Menkes disease","level":4,"score":0.4101274609565735},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3759838938713074},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3264243006706238},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.27868467569351196},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.17612111568450928},{"id":"https://openalex.org/C2780607864","wikidata":"https://www.wikidata.org/wiki/Q928697","display_name":"Sensorineural hearing loss","level":3,"score":0.17521849274635315},{"id":"https://openalex.org/C2991729501","wikidata":"https://www.wikidata.org/wiki/Q753","display_name":"Copper metabolism","level":3,"score":0.11498665809631348},{"id":"https://openalex.org/C544778455","wikidata":"https://www.wikidata.org/wiki/Q753","display_name":"Copper","level":2,"score":0.1108720600605011},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07709038257598877},{"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/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ajhg.2012.01.015","doi":"https://doi.org/10.1016/j.ajhg.2012.01.015","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2012.01.015","pdf_url":"http://www.cell.com/article/S0002929712000493/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3276667","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3276667","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1016/j.ajhg.2012.01.015","doi":"https://doi.org/10.1016/j.ajhg.2012.01.015","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2012.01.015","pdf_url":"http://www.cell.com/article/S0002929712000493/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9074000120162964}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4234006323.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7206931716","https://openalex.org/W2428759923","https://openalex.org/W4312116719","https://openalex.org/W7212322889","https://openalex.org/W1990620595","https://openalex.org/W4385297152","https://openalex.org/W4404885653","https://openalex.org/W4221083619","https://openalex.org/W2072126174","https://openalex.org/W2411967668"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2022-05-12T00:00:00"}
