{"id":"https://openalex.org/W2020351378","doi":"https://doi.org/10.1210/endo-15-5-435","title":"CEREBRAL ADIPOSITY WITH MENTAL DEFICIENCY AND RETINITIS PIGMENTOSA: THE LAURENCEBIEDL SYNDROME","display_name":"CEREBRAL ADIPOSITY WITH MENTAL DEFICIENCY AND RETINITIS PIGMENTOSA: THE LAURENCEBIEDL SYNDROME","publication_year":1931,"publication_date":"1931-09-01","ids":{"openalex":"https://openalex.org/W2020351378","doi":"https://doi.org/10.1210/endo-15-5-435","mag":"2020351378"},"language":"en","primary_location":{"id":"doi:10.1210/endo-15-5-435","doi":"https://doi.org/10.1210/endo-15-5-435","is_oa":false,"landing_page_url":"https://doi.org/10.1210/endo-15-5-435","pdf_url":null,"source":{"id":"https://openalex.org/S157527038","display_name":"Endocrinology","issn_l":"0013-7227","issn":["0013-7227","1945-7170"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","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":null,"display_name":"EDWARD WEISS","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"EDWARD WEISS","raw_affiliation_strings":["From the Department of Medicine, Jefferson Medical College Hospital PHILADELPHIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, Jefferson Medical College Hospital PHILADELPHIA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.12824427,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"15","issue":"5","first_page":"435","last_page":"441"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.611299991607666,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.611299991607666,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.09290000051259995,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.023399999365210533,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.8709999918937683},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7519999742507935},{"id":"https://openalex.org/keywords/polydactyly","display_name":"polydactyly","score":0.9399999976158142},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.40400001406669617},{"id":"https://openalex.org/keywords/developmental-failure","display_name":"development failure","score":0.6489999890327454},{"id":"https://openalex.org/keywords/cretinism","display_name":"cretinism","score":0.48500001430511475},{"id":"https://openalex.org/keywords/pituitary-gland","display_name":"pituitary gland","score":0.42500001192092896},{"id":"https://openalex.org/keywords/body-fat-distribution","display_name":"body fat distribution","score":0.3889999985694885}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.833838164806366},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6364574432373047},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.49003756046295166},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.47425782680511475},{"id":"https://openalex.org/C2993597288","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Mental deficiency","level":2,"score":0.4639657735824585},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4238308370113373},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.19520631432533264},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.16362988948822021},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1627081036567688}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1210/endo-15-5-435","doi":"https://doi.org/10.1210/endo-15-5-435","is_oa":false,"landing_page_url":"https://doi.org/10.1210/endo-15-5-435","pdf_url":null,"source":{"id":"https://openalex.org/S157527038","display_name":"Endocrinology","issn_l":"0013-7227","issn":["0013-7227","1945-7170"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Endocrinology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1998122118","https://openalex.org/W2097483218","https://openalex.org/W2124918743","https://openalex.org/W1964075399","https://openalex.org/W2099347159","https://openalex.org/W1985056884","https://openalex.org/W1985172171","https://openalex.org/W2055251810","https://openalex.org/W1991726565","https://openalex.org/W2318276675"],"abstract_inverted_index":{"In":[0],"1925":[1],"Solis-Cohen":[2],"and":[3,21,89,98,109,120,153],"Weiss":[4],"(1)":[5],"reported":[6,86],"four":[7],"children":[8,68],"of":[9,23,40,46,77,95,100,113,118,131,133,136,148,158],"one":[10],"family":[11,72,84],"who":[12],"exhibited":[13],"marked":[14],"adiposity":[15],"with":[16],"mental":[17,110,160],"deficiency,":[18],"genital":[19,107],"dystrophy":[20,108],"diminution":[22],"vision":[24],"due":[25],"to":[26,124,169],"retinitis":[27,104],"pigmentosa.":[28],"Another":[29],"anomaly,":[30],"polydactylism,":[31],"was":[32,39,128],"present":[33],"in":[34,56,69,92,156],"two.":[35],"The":[36,138],"fat":[37],"distribution":[38],"the":[41,47,70,78,142,159],"Fr\u00d6hlich":[42],"type.":[43],"Roentgen-ray":[44],"examinations":[45],"sella":[48],"region":[49],"did":[50],"not":[51,166],"show":[52],"conclusive":[53],"changes":[54,144],"nor":[55,135],"any":[57],"other":[58],"way":[59],"could":[60,164],"a":[61,81,149],"pituitary":[62],"lesion":[63],"be":[64],"proved.":[65],"Four":[66,94],"unaffected":[67],"same":[71],"were":[73,145],"entirely":[74],"normal.":[75],"Search":[76],"literature":[79],"revealed":[80],"remarkably":[82],"similar":[83],"group":[85],"by":[87],"Laurence":[88],"Moon":[90],"(2)":[91],"1866.":[93],"eight":[96],"brothers":[97],"sisters":[99],"healthy":[101],"parents":[102],"showed":[103,116],"pigmentosa,":[105],"adiposity,":[106],"deficiency.":[111],"Three":[112],"these":[114,162],"likewise":[115],"imperfections":[117],"bony":[119],"muscular":[121],"development":[122],"leading":[123],"defective":[125],"gait.":[126],"There":[127],"no":[129],"signs":[130],"rickets,":[132],"scrofula":[134],"syphilis.":[137],"authors":[139],"recognized":[140],"that":[141,154],"retinal":[143],"but":[146],"part":[147],"general":[150],"developmental":[151],"failure":[152],"especially":[155],"view":[157],"condition":[161],"persons":[163],"be,":[165],"inaptly,":[167],"compared":[168],"cretins.":[170]},"counts_by_year":[],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2016-06-24T00:00:00"}
