{"id":"https://openalex.org/W2149023054","doi":"https://doi.org/10.1016/s1665-2681(19)30890-7","title":"Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico","display_name":"Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico","publication_year":2014,"publication_date":"2014-03-01","ids":{"openalex":"https://openalex.org/W2149023054","doi":"https://doi.org/10.1016/s1665-2681(19)30890-7","mag":"2149023054","pmid":"https://pubmed.ncbi.nlm.nih.gov/24552869"},"language":"en","primary_location":{"id":"doi:10.1016/s1665-2681(19)30890-7","doi":"https://doi.org/10.1016/s1665-2681(19)30890-7","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s1665-2681(19)30890-7","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1665268119308907/pdf","source":{"id":"https://openalex.org/S32516778","display_name":"Annals of Hepatology","issn_l":"1665-2681","issn":["1665-2681","2659-5982"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Hepatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.sciencedirect.com/science/article/pii/S1665268119308907/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031309312","display_name":"Cynthia Fern\u00e1ndez\u2010Lainez","orcid":"https://orcid.org/0000-0001-7468-3420","observed_orcids":["https://orcid.org/0000-0001-7468-3420"]},"institutions":[{"id":"https://openalex.org/I4210095685","display_name":"Secretaria de Salud","ror":"https://ror.org/0082wq496","country_code":"MX","type":"government","lineage":["https://openalex.org/I4210095685"]},{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Cynthia Fern\u00e1ndez-Lainez","raw_affiliation_strings":["Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico","institution_ids":["https://openalex.org/I4210095685","https://openalex.org/I4210146908"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013748251","display_name":"Isabel Ibarra\u2010Gonz\u00e1lez","orcid":"https://orcid.org/0000-0001-8693-8531","observed_orcids":["https://orcid.org/0000-0001-8693-8531"]},"institutions":[{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]},{"id":"https://openalex.org/I8961855","display_name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico","ror":"https://ror.org/01tmp8f25","country_code":"MX","type":"education","lineage":["https://openalex.org/I8961855"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Isabel Ibarra-Gonz\u00e1lez","raw_affiliation_strings":["Unidad de Gen\u00e9tica de la Nutrici\u00f3n, Instituto de Investigaciones Biom\u00e9dicas, UNAM-Instituto Nacional de Pediatr\u00eda. M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Gen\u00e9tica de la Nutrici\u00f3n, Instituto de Investigaciones Biom\u00e9dicas, UNAM-Instituto Nacional de Pediatr\u00eda. M\u00e9xico","institution_ids":["https://openalex.org/I4210146908","https://openalex.org/I8961855"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076420129","display_name":"Leticia Belmont\u2010Mart\u00ednez","orcid":"https://orcid.org/0000-0002-3691-3659","observed_orcids":["https://orcid.org/0000-0002-3691-3659"]},"institutions":[{"id":"https://openalex.org/I4210095685","display_name":"Secretaria de Salud","ror":"https://ror.org/0082wq496","country_code":"MX","type":"government","lineage":["https://openalex.org/I4210095685"]},{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Leticia Belmont-Mart\u00ednez","raw_affiliation_strings":["Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico","institution_ids":["https://openalex.org/I4210095685","https://openalex.org/I4210146908"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015235815","display_name":"Susana Monroy","orcid":"https://orcid.org/0000-0002-0337-0205","observed_orcids":["https://orcid.org/0000-0002-0337-0205"]},"institutions":[{"id":"https://openalex.org/I4210095685","display_name":"Secretaria de Salud","ror":"https://ror.org/0082wq496","country_code":"MX","type":"government","lineage":["https://openalex.org/I4210095685"]},{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Susana Monroy-Santoyo","raw_affiliation_strings":["Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico","institution_ids":["https://openalex.org/I4210095685","https://openalex.org/I4210146908"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024324204","display_name":"Sara Guill\u00e9n L\u00f3pez","orcid":"https://orcid.org/0000-0001-6874-8662","observed_orcids":["https://orcid.org/0000-0001-6874-8662"]},"institutions":[{"id":"https://openalex.org/I4210095685","display_name":"Secretaria de Salud","ror":"https://ror.org/0082wq496","country_code":"MX","type":"government","lineage":["https://openalex.org/I4210095685"]},{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Sara Guill\u00e9n-L\u00f3pez","raw_affiliation_strings":["Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico","institution_ids":["https://openalex.org/I4210095685","https://openalex.org/I4210146908"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061248131","display_name":"Marcela Beatriz Vela-Amieva","orcid":"https://orcid.org/0000-0001-8230-4611","observed_orcids":["https://orcid.org/0000-0001-8230-4611"]},"institutions":[{"id":"https://openalex.org/I4210095685","display_name":"Secretaria de Salud","ror":"https://ror.org/0082wq496","country_code":"MX","type":"government","lineage":["https://openalex.org/I4210095685"]},{"id":"https://openalex.org/I4210146908","display_name":"Instituto Nacional de Pediatria","ror":"https://ror.org/05adj5455","country_code":"MX","type":"facility","lineage":["https://openalex.org/I4210146908"]}],"countries":["MX"],"is_corresponding":true,"raw_author_name":"Marcela Vela-Amieva","raw_affiliation_strings":["Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Errores Innatos del Metabolismo y Tamiz del Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud. M\u00e9xico","institution_ids":["https://openalex.org/I4210095685","https://openalex.org/I4210146908"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5061248131"],"corresponding_institution_ids":["https://openalex.org/I4210095685","https://openalex.org/I4210146908"],"apc_list":{"value":1500,"currency":"USD","value_usd":1500},"apc_paid":{"value":1500,"currency":"USD","value_usd":1500},"fwci":1.4887,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.76686217,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"13","issue":"2","first_page":"265","last_page":"272"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":1.0,"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":1.0,"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0,"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"}},{"id":"https://openalex.org/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/tyrosinemia-type-1","display_name":"tyrosinemia type I","score":0.9779999852180481},{"id":"https://openalex.org/keywords/succinylacetone","display_name":"succinylacetone","score":0.9700000286102295},{"id":"https://openalex.org/keywords/liver-failure","display_name":"liver failure","score":0.8579999804496765},{"id":"https://openalex.org/keywords/liver-cirrhosis","display_name":"liver cirrhosis","score":0.843999981880188},{"id":"https://openalex.org/keywords/fanconi-syndrome","display_name":"Fanconi syndrome","score":0.7749999761581421},{"id":"https://openalex.org/keywords/nitisinone","display_name":"nitisinone","score":0.7609999775886536},{"id":"https://openalex.org/keywords/liver-transplantation","display_name":"liver transplantation","score":0.9810000061988831},{"id":"https://openalex.org/keywords/mortality","display_name":"mortality","score":0.4560000002384186},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.7350000143051147},{"id":"https://openalex.org/keywords/mexican-patients","display_name":"Mexican patients","score":0.6129999756813049},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.5630000233650208}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9564754366874695},{"id":"https://openalex.org/C2781097277","wikidata":"https://www.wikidata.org/wiki/Q1122668","display_name":"Tyrosinemia","level":3,"score":0.6702205538749695},{"id":"https://openalex.org/C2777214474","wikidata":"https://www.wikidata.org/wiki/Q147778","display_name":"Cirrhosis","level":2,"score":0.6161701679229736},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5162487030029297},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.49609288573265076},{"id":"https://openalex.org/C2779609443","wikidata":"https://www.wikidata.org/wiki/Q1368191","display_name":"Liver transplantation","level":3,"score":0.47906026244163513},{"id":"https://openalex.org/C2778019345","wikidata":"https://www.wikidata.org/wiki/Q1148337","display_name":"Hepatocellular carcinoma","level":2,"score":0.46423783898353577},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4593082368373871},{"id":"https://openalex.org/C2776917539","wikidata":"https://www.wikidata.org/wiki/Q1497481","display_name":"Failure to thrive","level":2,"score":0.43364065885543823},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3797008991241455},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.3610113859176636},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C2776165026","wikidata":"https://www.wikidata.org/wiki/Q188017","display_name":"Tyrosine","level":2,"score":0.0},{"id":"https://openalex.org/C46141821","wikidata":"https://www.wikidata.org/wiki/Q209402","display_name":"Nuclear magnetic resonance","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003512","descriptor_name":"Cyclohexanones","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006537","descriptor_name":"Heptanoates","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008403","descriptor_name":"Mass Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008800","descriptor_name":"Mexico","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D009579","descriptor_name":"Nitrobenzoates","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015996","descriptor_name":"Survival Rate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016031","descriptor_name":"Liver Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020176","descriptor_name":"Tyrosinemias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020176","descriptor_name":"Tyrosinemias","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D020176","descriptor_name":"Tyrosinemias","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D044623","descriptor_name":"Nutrition Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/s1665-2681(19)30890-7","doi":"https://doi.org/10.1016/s1665-2681(19)30890-7","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s1665-2681(19)30890-7","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1665268119308907/pdf","source":{"id":"https://openalex.org/S32516778","display_name":"Annals of Hepatology","issn_l":"1665-2681","issn":["1665-2681","2659-5982"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Hepatology","raw_type":"journal-article"},{"id":"pmid:24552869","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24552869","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":"Annals of hepatology","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:ff84bbe3c3fb4c91b84302715976c02e","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/ff84bbe3c3fb4c91b84302715976c02e","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":"Annals of Hepatology, Vol 13, Iss 2, Pp 265-272 (2014)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/s1665-2681(19)30890-7","doi":"https://doi.org/10.1016/s1665-2681(19)30890-7","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s1665-2681(19)30890-7","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1665268119308907/pdf","source":{"id":"https://openalex.org/S32516778","display_name":"Annals of Hepatology","issn_l":"1665-2681","issn":["1665-2681","2659-5982"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Hepatology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2149023054.pdf","grobid_xml":"https://content.openalex.org/works/W2149023054.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W61678681","https://openalex.org/W73953680","https://openalex.org/W1489207739","https://openalex.org/W1518850821","https://openalex.org/W1539046877","https://openalex.org/W1574775391","https://openalex.org/W1934577465","https://openalex.org/W1964168996","https://openalex.org/W1967607849","https://openalex.org/W1971578381","https://openalex.org/W1977624474","https://openalex.org/W1987525757","https://openalex.org/W1989818074","https://openalex.org/W1991956348","https://openalex.org/W1993397575","https://openalex.org/W2024387905","https://openalex.org/W2046951338","https://openalex.org/W2048228403","https://openalex.org/W2059414850","https://openalex.org/W2060075352","https://openalex.org/W2073398016","https://openalex.org/W2084216480","https://openalex.org/W2102035792","https://openalex.org/W2116729076","https://openalex.org/W2117096003","https://openalex.org/W2125674718","https://openalex.org/W2133514168","https://openalex.org/W2139023170","https://openalex.org/W2142554782","https://openalex.org/W2155019761","https://openalex.org/W2165313301","https://openalex.org/W2405415138","https://openalex.org/W2599434612","https://openalex.org/W3123582176","https://openalex.org/W4210973172","https://openalex.org/W4234189375"],"related_works":["https://openalex.org/W2739695242","https://openalex.org/W3128330801","https://openalex.org/W4391404205","https://openalex.org/W1521412268","https://openalex.org/W3208021493","https://openalex.org/W4308557546","https://openalex.org/W2527317202","https://openalex.org/W2400227303","https://openalex.org/W1934577465","https://openalex.org/W1520379261"],"abstract_inverted_index":{"INTRODUCTION:":[0],"Hepatorenal":[1],"tyrosinemia":[2],"(HT1)":[3],"is":[4,23,230],"a":[5,33,124,138],"treatable,":[6],"inherited,":[7],"metabolic":[8],"disease":[9],"characterized":[10],"by":[11,63],"progressive":[12],"liver":[13,102,148,177],"failure":[14,110],"with":[15,161,191],"pronounced":[16],"coagulopathy.":[17],"The":[18,57,120,170,224],"aim":[19],"of":[20,35,47,59,65,127,142,173,194,221,228,247],"this":[21],"study":[22],"to":[24,111,207,210],"describe":[25],"the":[26,87,150,192,212,244,248],"clinical,":[27],"biochemical,":[28],"and":[29,39,53,86,109,118,163,182,201,217,241],"histopathological":[30],"findings":[31,97,114],"in":[32,67,189,233],"group":[34,122],"Mexican":[36,234],"HT1":[37,48,60,74,121,229],"patients":[38,49,235],"their":[40],"outcome.":[41],"MATERIAL":[42],"AND":[43],"METHODS:":[44],"Medical":[45],"records":[46],"diagnosed":[50,240],"between":[51],"1995":[52],"2011":[54],"were":[55,76,98,115,167,175],"analyzed.":[56,77],"diagnosis":[58,91],"was":[61,83,92,154],"confirmed":[62],"detection":[64],"succinylacetone":[66],"urine":[68],"or":[69,134],"blood.":[70],"RESULTS:":[71],"Sixteen":[72],"nonrelated":[73],"cases":[75,158],"Mean":[78],"age":[79,89],"at":[80,90],"clinical":[81,96,202],"onset":[82],"9":[84],"months,":[85],"mean":[88],"16.3":[93],"months.":[94],"Main":[95],"hepatomegaly,":[99],"splenomegaly,":[100],"cirrhosis,":[101,116],"failure,":[103,178],"tubulopathy,":[104],"nephromegaly,":[105],"Fanconi":[106],"syndrome,":[107],"seizures":[108],"thrive.":[112],"Histopathological":[113],"fibrosis":[117],"steatosis.":[119],"had":[123,137],"mortality":[125],"rate":[126,141,153],"78%.":[128],"Patients":[129],"who":[130,146],"received":[131],"supportive":[132],"care":[133],"nutritional":[135],"treatment":[136,160],"3-year":[139],"survival":[140,152],"10%.":[143],"For":[144],"those":[145],"underwent":[147],"transplantation,":[149],"6-year":[151],"60%.":[155],"In":[156],"most":[157],"pharmacological":[159],"nitisinone":[162],"special":[164],"dietary":[165],"products":[166],"not":[168,239],"available.":[169],"leading":[171],"causes":[172],"death":[174],"fulminant":[176],"metastatic":[179],"hepatocellular":[180],"carcinoma,":[181],"porphyria-like":[183],"neurologic":[184],"crisis.":[185],"Newborn":[186],"screening":[187],"programs":[188],"combination":[190],"availability":[193],"orphan":[195],"drugs,":[196],"proper":[197],"monitoring,":[198],"genetic":[199],"counseling,":[200],"practice":[203],"guidelines":[204],"are":[205,238],"needed":[206],"enable":[208],"physicians":[209],"identify":[211],"disease,":[213],"delay":[214],"its":[215],"progression,":[216],"improve":[218],"patients'":[219],"quality":[220],"life.":[222],"CONCLUSION:":[223],"devastating":[225],"natural":[226],"history":[227],"still":[231],"observed":[232],"because":[236],"they":[237],"treated":[242],"during":[243],"early":[245],"stages":[246],"disease.":[249]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}