{"id":"https://openalex.org/W3033325713","doi":null,"title":"Lesch Nyhan Syndrome","display_name":"Lesch Nyhan Syndrome","publication_year":2021,"publication_date":"2021-04-30","ids":{"openalex":"https://openalex.org/W3033325713","mag":"3033325713"},"language":"en","primary_location":{"id":"mag:3033325713","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32310539/","pdf_url":null,"source":{"id":"https://openalex.org/S4306530867","display_name":"StatPearls","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"StatPearls","raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049786559","display_name":"Apoorva Nanagiri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801317995","display_name":"Nassau University Medical Center","ror":"https://ror.org/03cc0mm23","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2801317995"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Apoorva Nanagiri","raw_affiliation_strings":["Nassau University Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nassau University Medical Center","institution_ids":["https://openalex.org/I2801317995"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5026020935","display_name":"Nadeem Shabbir","orcid":"https://orcid.org/0000-0002-4470-5518","observed_orcids":["https://orcid.org/0000-0002-4470-5518"]},"institutions":[{"id":"https://openalex.org/I2801317995","display_name":"Nassau University Medical Center","ror":"https://ror.org/03cc0mm23","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2801317995"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nadeem Shabbir","raw_affiliation_strings":["Nassau University Medical Center"],"raw_orcid":"https://orcid.org/0000-0002-4470-5518","affiliations":[{"raw_affiliation_string":"Nassau University Medical Center","institution_ids":["https://openalex.org/I2801317995"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I2801317995"],"apc_list":null,"apc_paid":null,"fwci":0.6307,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.59464356,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"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/T12827","display_name":"Biochemical and Molecular Research","score":0.9731000065803528,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T12827","display_name":"Biochemical and Molecular Research","score":0.9731000065803528,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.014499999582767487,"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/T11139","display_name":"Gout, Hyperuricemia, Uric Acid","score":0.008700000122189522,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lesch-nyhan-syndrome","display_name":"Lesch-Nyhan syndrome","score":0.9620000123977661},{"id":"https://openalex.org/keywords/hypoxanthine-guanine-phosphoribosyltransferase-deficiency","display_name":"hypoxanthine-guanine phosphoribosyltransferase deficiency","score":0.9660000205039978},{"id":"https://openalex.org/keywords/purine-salvage-pathway","display_name":"purine salvage pathway","score":0.9120000004768372},{"id":"https://openalex.org/keywords/hyperuricemia","display_name":"hyperuricemia","score":0.9459999799728394},{"id":"https://openalex.org/keywords/self-harm","display_name":"self-harm","score":0.8899999856948853},{"id":"https://openalex.org/keywords/involuntary-movements","display_name":"involuntary movements","score":0.8999999761581421},{"id":"https://openalex.org/keywords/neurodevelopmental-delay","display_name":"neurodevelopmental delay","score":0.7710000276565552},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.5770000219345093},{"id":"https://openalex.org/keywords/choreoathetosis","display_name":"choreoathetosis","score":0.8650000095367432},{"id":"https://openalex.org/keywords/spasticity","display_name":"spasticity","score":0.6919999718666077},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8849999904632568}],"concepts":[{"id":"https://openalex.org/C78179603","wikidata":"https://www.wikidata.org/wiki/Q14864606","display_name":"Hypoxanthine-guanine phosphoribosyltransferase","level":4,"score":0.9266347885131836},{"id":"https://openalex.org/C2779721657","wikidata":"https://www.wikidata.org/wiki/Q49970","display_name":"Hyperuricemia","level":3,"score":0.8712754249572754},{"id":"https://openalex.org/C2781196186","wikidata":"https://www.wikidata.org/wiki/Q3693493","display_name":"Choreoathetosis","level":3,"score":0.710623562335968},{"id":"https://openalex.org/C2777991568","wikidata":"https://www.wikidata.org/wiki/Q7187556","display_name":"Phosphoribosyltransferase","level":5,"score":0.6423292756080627},{"id":"https://openalex.org/C2777766392","wikidata":"https://www.wikidata.org/wiki/Q727436","display_name":"Lesch\u2013Nyhan syndrome","level":5,"score":0.5464337468147278},{"id":"https://openalex.org/C2781116151","wikidata":"https://www.wikidata.org/wiki/Q410305","display_name":"Hypoxanthine","level":3,"score":0.5195118188858032},{"id":"https://openalex.org/C169586020","wikidata":"https://www.wikidata.org/wiki/Q3780159","display_name":"Purine metabolism","level":3,"score":0.5029749274253845},{"id":"https://openalex.org/C2780402116","wikidata":"https://www.wikidata.org/wiki/Q133087","display_name":"Gout","level":2,"score":0.46923428773880005},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46861180663108826},{"id":"https://openalex.org/C2779881121","wikidata":"https://www.wikidata.org/wiki/Q105522","display_name":"Uric acid","level":2,"score":0.46822258830070496},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.44266778230667114},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.44118085503578186},{"id":"https://openalex.org/C2778939600","wikidata":"https://www.wikidata.org/wiki/Q3088229","display_name":"Rasburicase","level":4,"score":0.4273337125778198},{"id":"https://openalex.org/C2776476023","wikidata":"https://www.wikidata.org/wiki/Q188261","display_name":"Purine","level":3,"score":0.4265438914299011},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.42241179943084717},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.38890767097473145},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.31584250926971436},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.2763272821903229},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.06685614585876465},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.056397587060928345},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:3033325713","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32310539/","pdf_url":null,"source":{"id":"https://openalex.org/S4306530867","display_name":"StatPearls","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"StatPearls","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W61158164","https://openalex.org/W1984047912","https://openalex.org/W1988438450","https://openalex.org/W2024390232","https://openalex.org/W2046048290","https://openalex.org/W2060849171","https://openalex.org/W2080668081","https://openalex.org/W2083126132","https://openalex.org/W2084934927","https://openalex.org/W2097601313","https://openalex.org/W2108607187","https://openalex.org/W2140380026","https://openalex.org/W2153003537","https://openalex.org/W2155539795","https://openalex.org/W2807464028","https://openalex.org/W2974005863"],"related_works":["https://openalex.org/W4251820924","https://openalex.org/W1991284507","https://openalex.org/W1964664242","https://openalex.org/W2244700067","https://openalex.org/W2017242288","https://openalex.org/W2108607187","https://openalex.org/W2486944825","https://openalex.org/W2402112431","https://openalex.org/W1007218130","https://openalex.org/W1968094734"],"abstract_inverted_index":{"Lesch":[0,84],"Nyhan":[1,85],"syndrome":[2,124],"is":[3,25,55],"an":[4,16,47,77],"inborn":[5],"disorder":[6],"caused":[7],"by":[8,30],"a":[9,64],"deficiency":[10,61],"of":[11,18,43,66,73,80,91],"hypoxanthine-guanine":[12],"phosphoribosyltransferase":[13],"(HPRT)":[14],"enzyme,":[15],"enzyme":[17,24,45,74,78],"the":[19,44,71,88,92,97],"purine":[20],"salvage":[21],"pathway.":[22],"The":[23,94],"responsible":[26],"for":[27],"recycling":[28],"purines":[29],"converting":[31],"guanine":[32,50],"and":[33,38,51,109,130,135,148],"hypoxanthine":[34],"into":[35,57],"guanosine":[36],"monophosphate":[37],"inosine":[39],"monophosphate,":[40],"respectively.":[41],"Lack":[42],"causes":[46],"increase":[48],"in":[49,63],"hypoxanthine,":[52],"which":[53],"eventually":[54],"converted":[56],"uric":[58],"acid.":[59],"HPRT":[60,117],"results":[62],"spectrum":[65],"clinical":[67],"presentations":[68],"depending":[69],"on":[70],"severity":[72],"deficiency.":[75],"With":[76],"activity":[79,126,141],"less":[81,113],"than":[82],"1.5%,":[83],"falls":[86],"towards":[87],"severe":[89,114],"end":[90],"spectrum.":[93],"characteristics":[95],"defining":[96],"disease":[98],"are":[99],"hyperuricemia,":[100,119],"neurodevelopmental":[101],"abnormalities":[102],"with":[103,137,145],"global":[104],"developmental":[105],"delay,":[106],"involuntary":[107],"movements,":[108],"self-injurious":[110],"behavior.":[111],"Other":[112],"variants":[115],"include":[116],"related":[118,133],"also":[120],"known":[121],"as":[122],"Keeley\u2013Seegmiller":[123],"(enzyme":[125,140],"8%":[127],"to":[128,143],"60%,":[129],"only":[131],"hyperuricemia":[132,136,146],"symptoms),":[134],"neurological":[138,149],"disability":[139],"1.5":[142],"2%":[144],"symptoms":[147,150],"like":[151],"dystonia,":[152],"choreoathetosis,":[153],"spasticity,":[154],"intellectual":[155],"disability).":[156]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":4}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2020-06-12T00:00:00"}
