{"id":"https://openalex.org/W4313635896","doi":"https://doi.org/10.2139/ssrn.4312709","title":"Clinical Characterization and Outcome of Menkes Disease in Saudi Patients","display_name":"Clinical Characterization and Outcome of Menkes Disease in Saudi Patients","publication_year":2023,"publication_date":"2023-01-01","ids":{"openalex":"https://openalex.org/W4313635896","doi":"https://doi.org/10.2139/ssrn.4312709"},"language":"en","primary_location":{"id":"doi:10.2139/ssrn.4312709","doi":"https://doi.org/10.2139/ssrn.4312709","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.4312709","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.2139/ssrn.4312709","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113714045","display_name":"Moeen Al-Sayed","orcid":"https://orcid.org/0000-0003-1995-8465","observed_orcids":["https://orcid.org/0000-0003-1995-8465"]},"institutions":[{"id":"https://openalex.org/I4210098920","display_name":"Eastern Health","ror":"https://ror.org/00vyyx863","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210098920"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Moeen AlSayed","raw_affiliation_strings":["Eastern Health Cluster"],"raw_orcid":"https://orcid.org/0000-0003-1995-8465","affiliations":[{"raw_affiliation_string":"Eastern Health Cluster","institution_ids":["https://openalex.org/I4210098920"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081040905","display_name":"Zainab Al Masseri","orcid":"https://orcid.org/0000-0002-6202-3721","observed_orcids":["https://orcid.org/0000-0002-6202-3721"]},"institutions":[{"id":"https://openalex.org/I106778892","display_name":"Princess Nourah bint Abdulrahman University","ror":"https://ror.org/05b0cyh02","country_code":"SA","type":"education","lineage":["https://openalex.org/I106778892"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Zainab Al Masseri","raw_affiliation_strings":["Princess Nourah Bint Abdul Rahman University"],"raw_orcid":"https://orcid.org/0000-0002-6202-3721","affiliations":[{"raw_affiliation_string":"Princess Nourah Bint Abdul Rahman University","institution_ids":["https://openalex.org/I106778892"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032055373","display_name":"Maha Abdulraheem","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Maha Abdulraheem","raw_affiliation_strings":["King Faisal Specialist Hospital & Research Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King Faisal Specialist Hospital & Research Center","institution_ids":["https://openalex.org/I2800965796"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5113714045"],"corresponding_institution_ids":["https://openalex.org/I4210098920"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":0.9189000129699707,"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":0.9189000129699707,"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":0.041600000113248825,"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":0.007799999788403511,"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/menkes-disease","display_name":"Menkes disease","score":1.0},{"id":"https://openalex.org/keywords/atp7a","display_name":"ATP7A","score":0.8209999799728394},{"id":"https://openalex.org/keywords/copper-metabolism-disorder","display_name":"copper metabolism disorder","score":0.8669999837875366},{"id":"https://openalex.org/keywords/x-linked-recessive-disorder","display_name":"X-linked recessive disorder","score":0.8820000290870667},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7889999747276306},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9879999756813049},{"id":"https://openalex.org/keywords/refractory-seizures","display_name":"refractory seizures","score":0.9670000076293945},{"id":"https://openalex.org/keywords/osteopenia","display_name":"osteopenia","score":0.9409999847412109},{"id":"https://openalex.org/keywords/stress-fractures","display_name":"stress fractures","score":0.9380000233650208},{"id":"https://openalex.org/keywords/pectus-excavatum","display_name":"pectus excavatum","score":1.0},{"id":"https://openalex.org/keywords/bladder-diverticulum","display_name":"bladder diverticulum","score":0.8299999833106995},{"id":"https://openalex.org/keywords/hydronephrosis","display_name":"hydronephrosis","score":0.953000009059906},{"id":"https://openalex.org/keywords/subdural-hematoma","display_name":"subdural hematoma","score":0.8240000009536743},{"id":"https://openalex.org/keywords/saudi-patients","display_name":"Saudi patients","score":0.8209999799728394}],"concepts":[{"id":"https://openalex.org/C2777581567","wikidata":"https://www.wikidata.org/wiki/Q639203","display_name":"Menkes disease","level":4,"score":0.61797696352005},{"id":"https://openalex.org/C148220186","wikidata":"https://www.wikidata.org/wiki/Q7111912","display_name":"Outcome (game theory)","level":2,"score":0.584015429019928},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5196415185928345},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3592372536659241},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.3437529504299164},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.11936682462692261},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.1071246862411499},{"id":"https://openalex.org/C144237770","wikidata":"https://www.wikidata.org/wiki/Q747534","display_name":"Mathematical economics","level":1,"score":0.0},{"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/C2991729501","wikidata":"https://www.wikidata.org/wiki/Q753","display_name":"Copper metabolism","level":3,"score":0.0},{"id":"https://openalex.org/C544778455","wikidata":"https://www.wikidata.org/wiki/Q753","display_name":"Copper","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.2139/ssrn.4312709","doi":"https://doi.org/10.2139/ssrn.4312709","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.4312709","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.2139/ssrn.4312709","doi":"https://doi.org/10.2139/ssrn.4312709","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.4312709","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2187502029","https://openalex.org/W52544877","https://openalex.org/W4236591825","https://openalex.org/W4400390477","https://openalex.org/W2072126174","https://openalex.org/W7097201532","https://openalex.org/W7095435216","https://openalex.org/W3145647818","https://openalex.org/W859622340","https://openalex.org/W2408116344"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2023-01-07T00:00:00"}
