{"id":"https://openalex.org/W2071728697","doi":"https://doi.org/10.1016/0009-8981(83)90191-2","title":"Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia","display_name":"Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia","publication_year":1983,"publication_date":"1983-10-01","ids":{"openalex":"https://openalex.org/W2071728697","doi":"https://doi.org/10.1016/0009-8981(83)90191-2","mag":"2071728697","pmid":"https://pubmed.ncbi.nlm.nih.gov/6652907"},"language":"en","primary_location":{"id":"doi:10.1016/0009-8981(83)90191-2","doi":"https://doi.org/10.1016/0009-8981(83)90191-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0009-8981(83)90191-2","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinica Chimica Acta","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5085068425","display_name":"Ruud Berger","orcid":"https://orcid.org/0009-0009-1790-3672","observed_orcids":["https://orcid.org/0009-0009-1790-3672"]},"institutions":[{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"R. Berger","raw_affiliation_strings":["University of Groningen School of Medicine, Department of Pediatrics, 59 Oostersingel, GroningenThe Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Groningen School of Medicine, Department of Pediatrics, 59 Oostersingel, GroningenThe Netherlands","institution_ids":["https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066871411","display_name":"Henk van Faassen","orcid":"https://orcid.org/0000-0002-8836-1577","observed_orcids":["https://orcid.org/0000-0002-8836-1577"]},"institutions":[{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"H. van Faassen","raw_affiliation_strings":["University of Groningen School of Medicine, Department of Pediatrics, 59 Oostersingel, GroningenThe Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Groningen School of Medicine, Department of Pediatrics, 59 Oostersingel, GroningenThe Netherlands","institution_ids":["https://openalex.org/I169381384"]}]},{"author_position":"last","author":{"id":null,"display_name":"G.P.A. Smith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"G.P.A. Smith","raw_affiliation_strings":["University of Groningen School of Medicine, Department of Pediatrics, 59 Oostersingel, GroningenThe Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Groningen School of Medicine, Department of Pediatrics, 59 Oostersingel, GroningenThe Netherlands","institution_ids":["https://openalex.org/I169381384"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5085068425"],"corresponding_institution_ids":["https://openalex.org/I169381384"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":null,"fwci":1.4307,"has_fulltext":false,"cited_by_count":46,"citation_normalized_percentile":{"value":0.78554502,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"134","issue":"1-2","first_page":"129","last_page":"141"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9976000189781189,"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":0.9976000189781189,"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":0.0008999999845400453,"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/T12441","display_name":"Porphyrin Metabolism and Disorders","score":0.000699999975040555,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-tyrosinemia","display_name":"hereditary tyrosinemia","score":0.9589999914169312},{"id":"https://openalex.org/keywords/succinylacetone","display_name":"succinylacetone","score":0.9459999799728394},{"id":"https://openalex.org/keywords/delta-aminolevulinic-acid-dehydratase","display_name":"delta-aminolevulinic acid dehydratase","score":0.9539999961853027},{"id":"https://openalex.org/keywords/methionine-adenosyltransferase","display_name":"methionine adenosyltransferase","score":0.9909999966621399},{"id":"https://openalex.org/keywords/enzyme-inhibition","display_name":"enzyme inhibition","score":0.8130000233650208},{"id":"https://openalex.org/keywords/non-competitive-inhibition","display_name":"non-competitive inhibition","score":0.7549999952316284},{"id":"https://openalex.org/keywords/dithiothreitol","display_name":"dithiothreitol","score":0.8159999847412109},{"id":"https://openalex.org/keywords/erythrocytes","display_name":"erythrocytes","score":0.8069999814033508},{"id":"https://openalex.org/keywords/liver","display_name":"liver","score":0.9070000052452087}],"concepts":[{"id":"https://openalex.org/C2777824588","wikidata":"https://www.wikidata.org/wiki/Q414783","display_name":"Dithiothreitol","level":3,"score":0.8337329626083374},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.8056303858757019},{"id":"https://openalex.org/C2781374117","wikidata":"https://www.wikidata.org/wiki/Q5252382","display_name":"Dehydratase","level":3,"score":0.788725733757019},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.7426105737686157},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.6403242349624634},{"id":"https://openalex.org/C2909420578","wikidata":"https://www.wikidata.org/wiki/Q6823653","display_name":"Methionine Adenosyltransferase","level":4,"score":0.603758692741394},{"id":"https://openalex.org/C2780912031","wikidata":"https://www.wikidata.org/wiki/Q180341","display_name":"Methionine","level":3,"score":0.5878922939300537},{"id":"https://openalex.org/C2781097277","wikidata":"https://www.wikidata.org/wiki/Q1122668","display_name":"Tyrosinemia","level":3,"score":0.43570056557655334},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.2566058039665222},{"id":"https://openalex.org/C2776165026","wikidata":"https://www.wikidata.org/wiki/Q188017","display_name":"Tyrosine","level":2,"score":0.20449775457382202}],"mesh":[{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000623","descriptor_name":"Porphobilinogen Synthase","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007700","descriptor_name":"Kinetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008716","descriptor_name":"Methionine Adenosyltransferase","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D011817","descriptor_name":"Rabbits","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014443","descriptor_name":"Tyrosine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D015111","descriptor_name":"4-Hydroxyphenylpyruvate Dioxygenase","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/0009-8981(83)90191-2","doi":"https://doi.org/10.1016/0009-8981(83)90191-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0009-8981(83)90191-2","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinica Chimica Acta","raw_type":"journal-article"},{"id":"pmid:6652907","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6652907","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":"Clinica chimica acta; international journal of clinical chemistry","raw_type":"Journal Article"},{"id":"pmh:oai:pure.rug.nl:openaire_cris_publications/c5f104b3-de70-4bea-bf1d-889e194e7df2","doi":null,"is_oa":false,"landing_page_url":"https://research.rug.nl/en/publications/c5f104b3-de70-4bea-bf1d-889e194e7df2","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BERGER, R & SMITH, GPA 1983, 'BIOCHEMICAL-STUDIES ON THE ENZYMATIC DEFICIENCIES IN HEREDITARY TYROSINEMIA', Clinica chimica acta, vol. 134, no. 1-2, pp. 129-141.","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:rug:oai:pure.rug.nl:publications/c5f104b3-de70-4bea-bf1d-889e194e7df2","doi":null,"is_oa":false,"landing_page_url":"https://research.rug.nl/en/publications/c5f104b3-de70-4bea-bf1d-889e194e7df2","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinica chimica acta, 134(1-2), 129 - 141. ELSEVIER SCIENCE BV","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.504800021648407,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W73019834","https://openalex.org/W103192778","https://openalex.org/W130602472","https://openalex.org/W152764626","https://openalex.org/W184051498","https://openalex.org/W1497341992","https://openalex.org/W1521086187","https://openalex.org/W1537127568","https://openalex.org/W1983646822","https://openalex.org/W1991975357","https://openalex.org/W1994174299","https://openalex.org/W2019654441","https://openalex.org/W2029665225","https://openalex.org/W2030767210","https://openalex.org/W2037653414","https://openalex.org/W2044371257","https://openalex.org/W2047927555","https://openalex.org/W2052997539","https://openalex.org/W2070455720","https://openalex.org/W2070899125","https://openalex.org/W2083187042","https://openalex.org/W2084779432","https://openalex.org/W2086932144","https://openalex.org/W2087612452","https://openalex.org/W2093377525","https://openalex.org/W2395214090","https://openalex.org/W2407266184","https://openalex.org/W2798096044","https://openalex.org/W4300602852"],"related_works":["https://openalex.org/W2081959583","https://openalex.org/W46308131","https://openalex.org/W2044371257","https://openalex.org/W2345147256","https://openalex.org/W2086932144","https://openalex.org/W1544998211","https://openalex.org/W2007584258","https://openalex.org/W2047927555","https://openalex.org/W1965772668","https://openalex.org/W7134306686"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
