{"id":"https://openalex.org/W4406021089","doi":"https://doi.org/10.3760/cma.j.cn501113-20240501-00238","title":"[Research progresses in gene therapy for hepatolenticular degeneration].","display_name":"[Research progresses in gene therapy for hepatolenticular degeneration].","publication_year":2025,"publication_date":"2025-01-20","ids":{"openalex":"https://openalex.org/W4406021089","doi":"https://doi.org/10.3760/cma.j.cn501113-20240501-00238","pmid":"https://pubmed.ncbi.nlm.nih.gov/39743356","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12899212"},"language":"zh","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:12899212","doi":"https://doi.org/10.3760/cma.j.cn501113-20240501-00238","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/pdf/cjh-33-01-97.pdf","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":"Zhonghua Gan Zang Bing Za Zhi","raw_type":"Text"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/pdf/cjh-33-01-97.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023168745","display_name":"G Chen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197869895","display_name":"Anhui Medical University","ror":"https://ror.org/03xb04968","country_code":"CN","type":"education","lineage":["https://openalex.org/I197869895"]},{"id":"https://openalex.org/I4210136596","display_name":"First Affiliated Hospital of Anhui Medical University","ror":"https://ror.org/03t1yn780","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210136596"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"G Chen","raw_affiliation_strings":["Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China","institution_ids":["https://openalex.org/I197869895","https://openalex.org/I4210136596"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H Y Zheng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197869895","display_name":"Anhui Medical University","ror":"https://ror.org/03xb04968","country_code":"CN","type":"education","lineage":["https://openalex.org/I197869895"]},{"id":"https://openalex.org/I4210136596","display_name":"First Affiliated Hospital of Anhui Medical University","ror":"https://ror.org/03t1yn780","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210136596"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"H Y Zheng","raw_affiliation_strings":["Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China","institution_ids":["https://openalex.org/I197869895","https://openalex.org/I4210136596"]}]},{"author_position":"middle","author":{"id":null,"display_name":"F Liu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197869895","display_name":"Anhui Medical University","ror":"https://ror.org/03xb04968","country_code":"CN","type":"education","lineage":["https://openalex.org/I197869895"]},{"id":"https://openalex.org/I4210136596","display_name":"First Affiliated Hospital of Anhui Medical University","ror":"https://ror.org/03t1yn780","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210136596"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"F Liu","raw_affiliation_strings":["Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China","institution_ids":["https://openalex.org/I197869895","https://openalex.org/I4210136596"]}]},{"author_position":"middle","author":{"id":null,"display_name":"J Yuan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197869895","display_name":"Anhui Medical University","ror":"https://ror.org/03xb04968","country_code":"CN","type":"education","lineage":["https://openalex.org/I197869895"]},{"id":"https://openalex.org/I4210136596","display_name":"First Affiliated Hospital of Anhui Medical University","ror":"https://ror.org/03t1yn780","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210136596"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J Yuan","raw_affiliation_strings":["Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei 230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei 230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei 230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei 230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei 230032, China Anhui Provincial Institute of Translational Medicine, Hefei 230032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei 230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei 230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei 230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei 230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei 230032, China Anhui Provincial Institute of Translational Medicine, Hefei 230032, China","institution_ids":["https://openalex.org/I197869895","https://openalex.org/I4210136596"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015356988","display_name":"Yuanhong Xu","orcid":"https://orcid.org/0000-0002-1637-3800","observed_orcids":["https://orcid.org/0000-0002-1637-3800"]},"institutions":[{"id":"https://openalex.org/I197869895","display_name":"Anhui Medical University","ror":"https://ror.org/03xb04968","country_code":"CN","type":"education","lineage":["https://openalex.org/I197869895"]},{"id":"https://openalex.org/I4210136596","display_name":"First Affiliated Hospital of Anhui Medical University","ror":"https://ror.org/03t1yn780","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210136596"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Y H Xu","raw_affiliation_strings":["Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Laboratory, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China Anhui Province Key Laboratory of Zoonoses (Anhui Medical University), Hefei 230032, China The Provincial Key Laboratory of Zoonoses of High Institutions in Anhui (Anhui Medical University), Hefei 230032, China","institution_ids":["https://openalex.org/I197869895","https://openalex.org/I4210136596"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109306674","display_name":"W S Cheng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197869895","display_name":"Anhui Medical University","ror":"https://ror.org/03xb04968","country_code":"CN","type":"education","lineage":["https://openalex.org/I197869895"]},{"id":"https://openalex.org/I4210136596","display_name":"First Affiliated Hospital of Anhui Medical University","ror":"https://ror.org/03t1yn780","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210136596"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"W S Cheng","raw_affiliation_strings":["Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei 230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei 230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei 230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei 230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei 230032, China Anhui Provincial Institute of Translational Medicine, Hefei 230032, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei 230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei 230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei 230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei 230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei 230032, China Anhui Provincial Institute of Translational Medicine, Hefei 230032, China","institution_ids":["https://openalex.org/I197869895","https://openalex.org/I4210136596"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"33","issue":"1","first_page":"97","last_page":"102"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10915","display_name":"Trace Elements in Health","score":0.9179999828338623,"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":0.9179999828338623,"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/T10613","display_name":"Virus-based gene therapy research","score":0.01590000092983246,"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":0.010900000110268593,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/wilson-s-disease","display_name":"Wilson's disease","score":0.9589999914169312},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.9879999756813049},{"id":"https://openalex.org/keywords/atp7b","display_name":"ATP7B","score":0.949999988079071},{"id":"https://openalex.org/keywords/copper-metabolism","display_name":"copper metabolism","score":0.8830000162124634},{"id":"https://openalex.org/keywords/copper-transport","display_name":"copper transport","score":0.7360000014305115},{"id":"https://openalex.org/keywords/p-type-atpase","display_name":"P-type ATPase","score":0.8700000047683716},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.7960000038146973},{"id":"https://openalex.org/keywords/copper-deposition","display_name":"copper deposition","score":0.8209999799728394}],"concepts":[{"id":"https://openalex.org/C2779354088","wikidata":"https://www.wikidata.org/wiki/Q15467261","display_name":"Degeneration (medical)","level":2,"score":0.70561683177948},{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.6910499930381775},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42239224910736084},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4123998284339905},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3530007600784302},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.28934603929519653},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.282572865486145},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2659130394458771}],"mesh":[{"descriptor_ui":"D000073840","descriptor_name":"Copper-Transporting ATPases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000251","descriptor_name":"Adenosine Triphosphatases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006527","descriptor_name":"Hepatolenticular Degeneration","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D027682","descriptor_name":"Cation Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:12899212","doi":"https://doi.org/10.3760/cma.j.cn501113-20240501-00238","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/pdf/cjh-33-01-97.pdf","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":"Zhonghua Gan Zang Bing Za Zhi","raw_type":"Text"},{"id":"pmid:39743356","doi":"https://doi.org/10.3760/cma.j.cn501113-20240501-00238","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39743356","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":"Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:12899212","doi":"https://doi.org/10.3760/cma.j.cn501113-20240501-00238","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12899212/pdf/cjh-33-01-97.pdf","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":"Zhonghua Gan Zang Bing Za Zhi","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.979200005531311}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1587654605","display_name":null,"funder_award_id":"82302101","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G2589828385","display_name":null,"funder_award_id":"2023M740023","funder_id":"https://openalex.org/F4320321543","funder_display_name":"China Postdoctoral Science Foundation"},{"id":"https://openalex.org/G2665192156","display_name":null,"funder_award_id":"82101954","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G4122745500","display_name":null,"funder_award_id":"2308085QH244","funder_id":"https://openalex.org/F4320334897","funder_display_name":"Natural Science Foundation of Anhui Province"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320321543","display_name":"China Postdoctoral Science Foundation","ror":"https://ror.org/0426zh255"},{"id":"https://openalex.org/F4320334897","display_name":"Natural Science Foundation of Anhui Province","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4406021089.pdf","grobid_xml":"https://content.openalex.org/works/W4406021089.grobid-xml"},"referenced_works_count":37,"referenced_works":["https://openalex.org/W1518729035","https://openalex.org/W1796552583","https://openalex.org/W2003171404","https://openalex.org/W2013020196","https://openalex.org/W2029981569","https://openalex.org/W2052482773","https://openalex.org/W2064815984","https://openalex.org/W2068166332","https://openalex.org/W2091654204","https://openalex.org/W2100625171","https://openalex.org/W2140130129","https://openalex.org/W2163824660","https://openalex.org/W2172293798","https://openalex.org/W2404410683","https://openalex.org/W2412364946","https://openalex.org/W2606042625","https://openalex.org/W2746576603","https://openalex.org/W2765444747","https://openalex.org/W2784043380","https://openalex.org/W2914232802","https://openalex.org/W2947030399","https://openalex.org/W2970468982","https://openalex.org/W2981137429","https://openalex.org/W2997125990","https://openalex.org/W3089912296","https://openalex.org/W3093747153","https://openalex.org/W3209542850","https://openalex.org/W3212080551","https://openalex.org/W4211041131","https://openalex.org/W4213098794","https://openalex.org/W4214546644","https://openalex.org/W4221006861","https://openalex.org/W4291036670","https://openalex.org/W4292247257","https://openalex.org/W4321076735","https://openalex.org/W4386741810","https://openalex.org/W4390047497"],"related_works":["https://openalex.org/W3012564521","https://openalex.org/W4401247521","https://openalex.org/W2561891061","https://openalex.org/W3126460055","https://openalex.org/W4396837736","https://openalex.org/W3021100902","https://openalex.org/W1920876971","https://openalex.org/W2989591147","https://openalex.org/W4398770984","https://openalex.org/W7092321256"],"abstract_inverted_index":{"Hepatolenticular":[0],"degeneration,":[1],"also":[2],"known":[3],"as":[4,68,94],"Wilson's":[5,79],"disease,":[6],"is":[7,22,37],"a":[8,33,136],"type":[9],"of":[10,15,28,56,78,99,116,144],"autosomal":[11],"recessive":[12],"genetic":[13,129],"disorder":[14],"copper":[16,40,63,87,91],"metabolism.":[17],"The":[18],"causative":[19],"gene,":[20],"ATP7B,":[21],"located":[23],"on":[24],"the":[25,45,51,57,69,76,97,108,128,141],"long":[26],"arm":[27],"chromosome":[29],"13":[30],"and":[31,73,113,139],"encodes":[32],"P-type":[34],"ATPase":[35],"that":[36],"involved":[38],"in":[39,44,61,65,120],"transport.":[41],"Pathogenic":[42],"mutations":[43],"ATP7B":[46,58,132],"gene":[47],"sequence":[48],"lead":[49],"to":[50,85,95],"diminished":[52],"or":[53,89],"lost":[54],"function":[55],"protein,":[59],"resulting":[60],"pathological":[62],"deposition":[64],"organs":[66],"such":[67],"liver,":[70],"brain,":[71],"kidneys,":[72],"cornea.":[74],"Currently,":[75],"treatment":[77,103],"disease":[80],"primarily":[81],"involves":[82],"oral":[83],"medications":[84],"promote":[86],"excretion":[88],"reduce":[90],"absorption":[92],"so":[93],"alleviate":[96],"state":[98],"illness.":[100],"However,":[101],"pharmacological":[102],"has":[104],"objective":[105],"limitations,":[106],"including":[107],"need":[109],"for":[110],"lifelong":[111],"therapy":[112,124],"varying":[114],"degrees":[115],"adverse":[117],"drug":[118],"reactions":[119],"some":[121],"patients.":[122],"Gene":[123],"can":[125],"fully":[126],"correct":[127],"defect,":[130],"restore":[131],"protein":[133],"function,":[134],"achieve":[135],"curative":[137],"effect,":[138],"improve":[140],"patient's":[142],"quality":[143],"life.":[145]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2025-01-03T00:00:00"}
