{"id":"https://openalex.org/W2139747358","doi":"https://doi.org/10.1590/s1415-47572006000300003","title":"Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients","display_name":"Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W2139747358","doi":"https://doi.org/10.1590/s1415-47572006000300003","mag":"2139747358"},"language":"en","primary_location":{"id":"doi:10.1590/s1415-47572006000300003","doi":"https://doi.org/10.1590/s1415-47572006000300003","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s1415-47572006000300003","pdf_url":"https://www.scielo.br/j/gmb/a/G3JzJPqFzRLnx3mKsbRMkBf/?lang=en&format=pdf","source":{"id":"https://openalex.org/S151355818","display_name":"Genetics and Molecular Biology","issn_l":"1415-4757","issn":["1415-4757","1678-4685"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310312091","host_organization_name":"Brazilian Society of Genetics","host_organization_lineage":["https://openalex.org/P4310312091"],"host_organization_lineage_names":["Brazilian Society of Genetics"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.scielo.br/j/gmb/a/G3JzJPqFzRLnx3mKsbRMkBf/?lang=en&format=pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5007603626","display_name":"Fernanda B. Scalco","orcid":"https://orcid.org/0000-0002-6032-9102","observed_orcids":["https://orcid.org/0000-0002-6032-9102"]},"institutions":[{"id":"https://openalex.org/I879563668","display_name":"Universidade Estadual Paulista (Unesp)","ror":"https://ror.org/00987cb86","country_code":"BR","type":"education","lineage":["https://openalex.org/I879563668"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Fernanda B. Scalco","raw_affiliation_strings":["Universidade Estadual Paulista, Brazil","Universidade Estadual Paulista, Botucatu, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Estadual Paulista, Brazil","institution_ids":["https://openalex.org/I879563668"]},{"raw_affiliation_string":"Universidade Estadual Paulista, Botucatu, Brazil","institution_ids":["https://openalex.org/I879563668"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057632867","display_name":"Paulo Alberto Otto","orcid":"https://orcid.org/0000-0001-8810-6608","observed_orcids":["https://orcid.org/0000-0001-8810-6608"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Paulo A. Otto","raw_affiliation_strings":["Universidade de S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade de S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024537212","display_name":"Iguatemy Louren\u00e7o Brunetti","orcid":"https://orcid.org/0000-0003-4927-7599","observed_orcids":["https://orcid.org/0000-0003-4927-7599"]},"institutions":[{"id":"https://openalex.org/I879563668","display_name":"Universidade Estadual Paulista (Unesp)","ror":"https://ror.org/00987cb86","country_code":"BR","type":"education","lineage":["https://openalex.org/I879563668"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Iguatemy L. Brunetti","raw_affiliation_strings":["Universidade Estadual Paulista, Brazil","- Universidade Estadual Paulista, Araraquara, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Estadual Paulista, Brazil","institution_ids":["https://openalex.org/I879563668"]},{"raw_affiliation_string":"- Universidade Estadual Paulista, Araraquara, Brazil","institution_ids":["https://openalex.org/I879563668"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080444139","display_name":"Vania M. Cruzes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I879563668","display_name":"Universidade Estadual Paulista (Unesp)","ror":"https://ror.org/00987cb86","country_code":"BR","type":"education","lineage":["https://openalex.org/I879563668"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Vania M. Cruzes","raw_affiliation_strings":["Universidade Estadual Paulista, Brazil","- Universidade Estadual Paulista, Araraquara, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Estadual Paulista, Brazil","institution_ids":["https://openalex.org/I879563668"]},{"raw_affiliation_string":"- Universidade Estadual Paulista, Araraquara, Brazil","institution_ids":["https://openalex.org/I879563668"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042770768","display_name":"Danilo Moretti\u2010Ferreira","orcid":"https://orcid.org/0000-0002-9256-7623","observed_orcids":["https://orcid.org/0000-0002-9256-7623"]},"institutions":[{"id":"https://openalex.org/I879563668","display_name":"Universidade Estadual Paulista (Unesp)","ror":"https://ror.org/00987cb86","country_code":"BR","type":"education","lineage":["https://openalex.org/I879563668"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Danilo Moretti-Ferreira","raw_affiliation_strings":["Universidade Estadual Paulista, Brazil","Universidade Estadual Paulista, Botucatu, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Estadual Paulista, Brazil","institution_ids":["https://openalex.org/I879563668"]},{"raw_affiliation_string":"Universidade Estadual Paulista, Botucatu, Brazil","institution_ids":["https://openalex.org/I879563668"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":700,"currency":"USD","value_usd":700},"apc_paid":{"value":700,"currency":"USD","value_usd":700},"fwci":0.1926,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.47674419,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"29","issue":"3","first_page":"429","last_page":"436"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.7455999851226807,"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":0.7455999851226807,"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":0.125,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/T11618","display_name":"Cholesterol and Lipid Metabolism","score":0.0333000011742115,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/smith-lemli-opitz-syndrome","display_name":"Smith-Lemli-Opitz syndrome","score":1.0},{"id":"https://openalex.org/keywords/7-dehydrocholesterol","display_name":"7-dehydrocholesterol","score":0.8460000157356262},{"id":"https://openalex.org/keywords/cholesterol-deficiency","display_name":"cholesterol deficiency","score":0.5870000123977661},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.7919999957084656},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9629999995231628},{"id":"https://openalex.org/keywords/syndactyly","display_name":"syndactyly","score":0.8899999856948853},{"id":"https://openalex.org/keywords/craniofacial-abnormalities","display_name":"craniofacial anomalies","score":0.9459999799728394},{"id":"https://openalex.org/keywords/microcephaly","display_name":"microcephaly","score":0.9210000038146973},{"id":"https://openalex.org/keywords/genital-anomalies","display_name":"genital anomalies","score":0.8529999852180481},{"id":"https://openalex.org/keywords/diagnostic-probability","display_name":"diagnostic probability","score":0.5540000200271606},{"id":"https://openalex.org/keywords/brazilian-patients","display_name":"Brazilian patients","score":0.8149999976158142}],"concepts":[{"id":"https://openalex.org/C2780716534","wikidata":"https://www.wikidata.org/wiki/Q998273","display_name":"Smith\u2013Lemli\u2013Opitz syndrome","level":5,"score":0.9866063594818115},{"id":"https://openalex.org/C2777202849","wikidata":"https://www.wikidata.org/wiki/Q1360044","display_name":"Syndactyly","level":2,"score":0.8575247526168823},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6877899169921875},{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.6566040515899658},{"id":"https://openalex.org/C2778718757","wikidata":"https://www.wikidata.org/wiki/Q143623","display_name":"Sterol","level":3,"score":0.6198189854621887},{"id":"https://openalex.org/C2781194658","wikidata":"https://www.wikidata.org/wiki/Q622427","display_name":"Ptosis","level":2,"score":0.505702018737793},{"id":"https://openalex.org/C42558546","wikidata":"https://www.wikidata.org/wiki/Q7128693","display_name":"Palpebral fissure","level":2,"score":0.5018081665039062},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5010442733764648},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.4555555284023285},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4546315371990204},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.3930482566356659},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32400453090667725},{"id":"https://openalex.org/C134651460","wikidata":"https://www.wikidata.org/wiki/Q3100717","display_name":"Reductase","level":3,"score":0.2574329376220703},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.2407960295677185},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1880202293395996},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.13763439655303955},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.11358830332756042},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.09306135773658752},{"id":"https://openalex.org/C104788683","wikidata":"https://www.wikidata.org/wiki/Q259292","display_name":"7-Dehydrocholesterol reductase","level":4,"score":0.08259227871894836},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.0}],"mesh":[],"locations_count":9,"locations":[{"id":"doi:10.1590/s1415-47572006000300003","doi":"https://doi.org/10.1590/s1415-47572006000300003","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s1415-47572006000300003","pdf_url":"https://www.scielo.br/j/gmb/a/G3JzJPqFzRLnx3mKsbRMkBf/?lang=en&format=pdf","source":{"id":"https://openalex.org/S151355818","display_name":"Genetics and Molecular Biology","issn_l":"1415-4757","issn":["1415-4757","1678-4685"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310312091","host_organization_name":"Brazilian Society of Genetics","host_organization_lineage":["https://openalex.org/P4310312091"],"host_organization_lineage_names":["Brazilian Society of Genetics"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology","raw_type":"journal-article"},{"id":"pmh:001672544","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.br/pdf/gmb/v29n3/30744.pdf","pdf_url":"http://www.scielo.br/pdf/gmb/v29n3/30744.pdf","source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"instacron:USP","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:americanae.aecid.es:1709168","doi":null,"is_oa":true,"landing_page_url":"http://doi.org/10.1590/S1415-47572006000300003","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"reponame:Reposit\u00f3rio Institucional da UNESP","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:scielo:S1415-47572006000300003","doi":null,"is_oa":true,"landing_page_url":"http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300003","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology v.29 n.3 2006","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.629.455","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.629.455","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.scielo.br/pdf/gmb/v29n3/30744.pdf","raw_type":"text"},{"id":"pmh:oai:acervodigital.unesp.br:11449/7245","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11449/7245","pdf_url":null,"source":{"id":"https://openalex.org/S4306400256","display_name":"Acervo Digital da Universidade Estadual Paulista (Universidade Estadual Paulista)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210115194","host_organization_name":"Funda\u00e7\u00e3o para o Desenvolvimento da UNESP","host_organization_lineage":["https://openalex.org/I4210115194"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"outro"},{"id":"pmh:oai:americanae.aecid.es:2474563","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2474563","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics and Molecular Biology v.29 n.3 2006","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:3d7938e9468b4005b25c23b65b42c042","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/3d7938e9468b4005b25c23b65b42c042","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics and Molecular Biology, Vol 29, Iss 3, Pp 429-436 (2006)","raw_type":"article"},{"id":"pmh:oai:repositorio.unesp.br:11449/7245","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11449/7245","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"instacron:UNESP","raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":{"id":"doi:10.1590/s1415-47572006000300003","doi":"https://doi.org/10.1590/s1415-47572006000300003","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s1415-47572006000300003","pdf_url":"https://www.scielo.br/j/gmb/a/G3JzJPqFzRLnx3mKsbRMkBf/?lang=en&format=pdf","source":{"id":"https://openalex.org/S151355818","display_name":"Genetics and Molecular Biology","issn_l":"1415-4757","issn":["1415-4757","1678-4685"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310312091","host_organization_name":"Brazilian Society of Genetics","host_organization_lineage":["https://openalex.org/P4310312091"],"host_organization_lineage_names":["Brazilian Society of Genetics"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321091","display_name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","ror":"https://ror.org/00x0ma614"},{"id":"https://openalex.org/F4320322177","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38"},{"id":"https://openalex.org/F4320322987","display_name":"Universidade Federal do Rio Grande do Sul","ror":"https://ror.org/041yk2d64"},{"id":"https://openalex.org/F4320323683","display_name":"Faculdade de Medicina de S\u00e3o Jos\u00e9 do Rio Preto","ror":"https://ror.org/052e6h087"},{"id":"https://openalex.org/F4320323854","display_name":"Universidade Estadual de Campinas","ror":"https://ror.org/04wffgt70"},{"id":"https://openalex.org/F4320323917","display_name":"Funda\u00e7\u00e3o Oswaldo Cruz","ror":"https://ror.org/04jhswv08"},{"id":"https://openalex.org/F4320324369","display_name":"Universidade Federal de Minas Gerais","ror":"https://ror.org/0176yjw32"},{"id":"https://openalex.org/F4320325879","display_name":"Universidade Estadual Paulista","ror":"https://ror.org/00987cb86"},{"id":"https://openalex.org/F4320336891","display_name":"Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2139747358.pdf","grobid_xml":"https://content.openalex.org/works/W2139747358.grobid-xml"},"referenced_works_count":49,"referenced_works":["https://openalex.org/W1859885259","https://openalex.org/W1921739958","https://openalex.org/W1926963349","https://openalex.org/W1946263363","https://openalex.org/W1964134426","https://openalex.org/W1964390696","https://openalex.org/W1970471065","https://openalex.org/W1976551834","https://openalex.org/W1980611655","https://openalex.org/W1996473848","https://openalex.org/W1997874485","https://openalex.org/W2002497053","https://openalex.org/W2004959718","https://openalex.org/W2008679927","https://openalex.org/W2009661051","https://openalex.org/W2011409454","https://openalex.org/W2025864519","https://openalex.org/W2027187053","https://openalex.org/W2028873455","https://openalex.org/W2033187770","https://openalex.org/W2035384080","https://openalex.org/W2045847921","https://openalex.org/W2046682094","https://openalex.org/W2046954484","https://openalex.org/W2050029166","https://openalex.org/W2059172428","https://openalex.org/W2066253420","https://openalex.org/W2067672420","https://openalex.org/W2077495051","https://openalex.org/W2082468153","https://openalex.org/W2084085906","https://openalex.org/W2085338040","https://openalex.org/W2091001150","https://openalex.org/W2093330796","https://openalex.org/W2102944769","https://openalex.org/W2103183093","https://openalex.org/W2104533775","https://openalex.org/W2113773503","https://openalex.org/W2116236170","https://openalex.org/W2137173150","https://openalex.org/W2143076431","https://openalex.org/W2145484925","https://openalex.org/W2153289706","https://openalex.org/W2156276761","https://openalex.org/W2156679744","https://openalex.org/W2161869952","https://openalex.org/W2181885334","https://openalex.org/W2228651348","https://openalex.org/W4390429664"],"related_works":["https://openalex.org/W7008725048","https://openalex.org/W2046954484","https://openalex.org/W2136555915","https://openalex.org/W2063766305","https://openalex.org/W2093261381","https://openalex.org/W1528175143","https://openalex.org/W2053941752","https://openalex.org/W6902485421","https://openalex.org/W2104533775","https://openalex.org/W4241226211"],"abstract_inverted_index":{"Smith-Lemli-Opitz":[0],"syndrome":[1,5],"(SLOS)":[2],"or":[3],"RSH":[4],"comprises":[6],"multiple":[7],"congenital":[8],"anomalies":[9,148,166],"and":[10,28,38,56,81,88,122,146,162],"mental":[11,134],"retardation.":[12],"The":[13,118],"underlying":[14],"defect":[15],"is":[16],"a":[17,46,62,110],"deficiency":[18],"in":[19,45,125,169],"the":[20,40,67,72,93,114,129],"activity":[21],"of":[22,42,48,69,74,86,116,128,142],"delta7-sterol":[23],"reductase,":[24],"which":[25],"decreases":[26],"cholesterol":[27,87],"increases":[29],"7-dehydrocholesterol":[30],"(7-DHC)":[31],"levels.":[32],"Our":[33],"aim":[34],"was":[35,95],"to":[36],"identify":[37],"evaluate":[39],"frequency":[41],"SLOS":[43],"manifestations":[44],"group":[47],"Brazilian":[49],"patients.":[50],"Based":[51],"on":[52],"our":[53],"own":[54],"data":[55],"those":[57],"reported":[58],"previously,":[59],"we":[60],"present":[61],"simple":[63],"method":[64],"that":[65],"allows":[66],"estimation":[68],"probabilities":[70],"favoring":[71,113],"diagnosis":[73,94,115],"SLOS.":[75,117],"We":[76],"evaluated":[77],"30":[78],"patients":[79,103,172],"clinically":[80],"determined":[82],"their":[83],"plasma":[84],"levels":[85],"7-dehydrocholesterol.":[89],"In":[90],"11":[91],"patients,":[92],"confirmed":[96,131],"by":[97],"ultraviolet":[98],"spectrophotometry":[99],"(UV).":[100],"Of":[101],"19":[102],"with":[104],"normal":[105],"laboratory":[106],"results,":[107],"17":[108],"showed":[109],"high":[111],"probability":[112],"most":[119],"significant":[120],"signs":[121],"symptoms":[123],"observed":[124],"over":[126],"2/3":[127],"biochemically":[130],"cases":[132],"were":[133,167],"retardation":[135],"(10/11),":[136,140,145,158,161],"delayed":[137],"neuropsychomotor":[138],"development":[139],"syndactyly":[141],"2nd/3rd":[143],"toes":[144],"craniofacial":[147],"including":[149],"microcephaly":[150],"(11/11),":[151],"incompletely":[152],"rotated":[153],"ears":[154],"(8/11),":[155],"palpebral":[156],"ptosis":[157],"anteverted":[159],"nostrils":[160],"micrognathia":[163],"(9/11).":[164],"Genital":[165],"found":[168],"all":[170],"male":[171],"(6/6).":[173]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}