{"id":"https://openalex.org/W1976317569","doi":"https://doi.org/10.1002/hep.510290112","title":"Mice Deficient in the Urea\u2013Cycle Enzyme, Carbamoyl Phosphate Synthetase I, Die During the Early Neonatal Period From Hyperammonemia","display_name":"Mice Deficient in the Urea\u2013Cycle Enzyme, Carbamoyl Phosphate Synthetase I, Die During the Early Neonatal Period From Hyperammonemia","publication_year":1999,"publication_date":"1999-01-01","ids":{"openalex":"https://openalex.org/W1976317569","doi":"https://doi.org/10.1002/hep.510290112","mag":"1976317569","pmid":"https://pubmed.ncbi.nlm.nih.gov/9862865"},"language":"en","primary_location":{"id":"doi:10.1002/hep.510290112","doi":"https://doi.org/10.1002/hep.510290112","is_oa":false,"landing_page_url":"https://doi.org/10.1002/hep.510290112","pdf_url":null,"source":{"id":"https://openalex.org/S156174673","display_name":"Hepatology","issn_l":"0270-9139","issn":["0270-9139","1527-3350"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatology","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/A5113612224","display_name":"J. Paul Schofield","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Paul J. Schofield","raw_affiliation_strings":["University of Cambridge Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Cambridge Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113612224","display_name":"J. Paul Schofield","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Paul J. Schofield","raw_affiliation_strings":["University of Cambridge Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Cambridge Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080995646","display_name":"Timothy Martin Cox","orcid":"https://orcid.org/0000-0002-4951-9941","observed_orcids":["https://orcid.org/0000-0002-4951-9941"]},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]},{"id":"https://openalex.org/I4210156194","display_name":"Addenbrooke's Hospital","ror":"https://ror.org/055vbxf86","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933","https://openalex.org/I4210156194"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Timothy M. Cox","raw_affiliation_strings":["University of Cambridge Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Cambridge Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge, UK","institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110129257","display_name":"C. Thomas Caskey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285764155","display_name":"Merck & Co., Inc., Rahway, NJ, USA (United States)","ror":"https://ror.org/02891sr49","country_code":"US","type":"company","lineage":["https://openalex.org/I1285764155"]},{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas C. Caskey","raw_affiliation_strings":["Merck & Co. Inc., Department of Human Genetics, West Point, PA","The University of Texas M.D. Anderson Cancer Center, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Merck & Co. Inc., Department of Human Genetics, West Point, PA","institution_ids":["https://openalex.org/I1285764155"]},{"raw_affiliation_string":"The University of Texas M.D. Anderson Cancer Center, Houston, TX","institution_ids":["https://openalex.org/I1343551460"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086327187","display_name":"Maki Wakamiya","orcid":"https://orcid.org/0000-0003-2209-2703","observed_orcids":["https://orcid.org/0000-0003-2209-2703"]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maki Wakamiya","raw_affiliation_strings":["Department of Molecular Genetics, The University of Texas M.D. Anderson Cancer Center, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, The University of Texas M.D. Anderson Cancer Center, Houston, TX","institution_ids":["https://openalex.org/I1343551460"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5113612224"],"corresponding_institution_ids":["https://openalex.org/I241749","https://openalex.org/I4210156194"],"apc_list":{"value":2900,"currency":"USD","value_usd":2900},"apc_paid":null,"fwci":0.4136,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.54403131,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"29","issue":"1","first_page":"181","last_page":"185"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9911999702453613,"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":0.9911999702453613,"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":0.006200000178068876,"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/T12827","display_name":"Biochemical and Molecular Research","score":0.0008999999845400453,"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/carbamoyl-phosphate-synthetase-i","display_name":"carbamoyl phosphate synthetase I","score":0.9800000190734863},{"id":"https://openalex.org/keywords/urea-cycle","display_name":"urea cycle","score":0.8140000104904175},{"id":"https://openalex.org/keywords/hyperammonemia","display_name":"hyperammonemia","score":0.9599999785423279},{"id":"https://openalex.org/keywords/neonatal-lethality","display_name":"neonatal lethality","score":0.7360000014305115},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.6629999876022339},{"id":"https://openalex.org/keywords/gene-targeting","display_name":"gene targeting","score":0.8920000195503235},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.5419999957084656},{"id":"https://openalex.org/keywords/ammonia-detoxification","display_name":"ammonia detoxification","score":0.6269999742507935},{"id":"https://openalex.org/keywords/citrulline","display_name":"citrulline","score":0.6990000009536743},{"id":"https://openalex.org/keywords/l-arginine","display_name":"L-arginine","score":0.8190000057220459},{"id":"https://openalex.org/keywords/glutamine","display_name":"glutamine","score":0.8019999861717224},{"id":"https://openalex.org/keywords/alanine","display_name":"alanine","score":0.8859999775886536}],"concepts":[{"id":"https://openalex.org/C2781099255","wikidata":"https://www.wikidata.org/wiki/Q1640868","display_name":"Hyperammonemia","level":2,"score":0.930997371673584},{"id":"https://openalex.org/C74539022","wikidata":"https://www.wikidata.org/wiki/Q5037840","display_name":"Carbamoyl phosphate synthetase","level":3,"score":0.9181069731712341},{"id":"https://openalex.org/C77061444","wikidata":"https://www.wikidata.org/wiki/Q595994","display_name":"Urea cycle","level":4,"score":0.8686217665672302},{"id":"https://openalex.org/C2780365088","wikidata":"https://www.wikidata.org/wiki/Q48318","display_name":"Urea","level":2,"score":0.6046688556671143},{"id":"https://openalex.org/C2781291010","wikidata":"https://www.wikidata.org/wiki/Q178580","display_name":"Period (music)","level":2,"score":0.5650078654289246},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5107536315917969},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.5039817690849304},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5020649433135986},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.438312292098999},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3740262985229492},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26743656396865845},{"id":"https://openalex.org/C2777468819","wikidata":"https://www.wikidata.org/wiki/Q173670","display_name":"Arginine","level":3,"score":0.08653309941291809},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.05423659086227417},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.046619951725006104},{"id":"https://openalex.org/C107038049","wikidata":"https://www.wikidata.org/wiki/Q35986","display_name":"Aesthetics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000641","descriptor_name":"Ammonia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000831","descriptor_name":"Animals, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002222","descriptor_name":"Carbamoyl-Phosphate Synthase (Ammonia)","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D002222","descriptor_name":"Carbamoyl-Phosphate Synthase (Ammonia)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005822","descriptor_name":"Genetic Vectors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D008817","descriptor_name":"Mice, Mutant Strains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014508","descriptor_name":"Urea","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D018390","descriptor_name":"Gene Targeting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/hep.510290112","doi":"https://doi.org/10.1002/hep.510290112","is_oa":false,"landing_page_url":"https://doi.org/10.1002/hep.510290112","pdf_url":null,"source":{"id":"https://openalex.org/S156174673","display_name":"Hepatology","issn_l":"0270-9139","issn":["0270-9139","1527-3350"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hepatology","raw_type":"journal-article"},{"id":"pmid:9862865","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9862865","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":"Hepatology (Baltimore, Md.)","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W569951484","https://openalex.org/W635287481","https://openalex.org/W1589876235","https://openalex.org/W1968910971","https://openalex.org/W1975979847","https://openalex.org/W2025671289","https://openalex.org/W2046746594","https://openalex.org/W2064109032","https://openalex.org/W2074732853","https://openalex.org/W2081656814","https://openalex.org/W2088890807","https://openalex.org/W2092127993","https://openalex.org/W2103736146","https://openalex.org/W2104803433","https://openalex.org/W2107707248","https://openalex.org/W2127659844","https://openalex.org/W2133143905","https://openalex.org/W2134812217","https://openalex.org/W2141147894","https://openalex.org/W2144634347","https://openalex.org/W2145130695","https://openalex.org/W2314225431","https://openalex.org/W2338392753","https://openalex.org/W2399963799","https://openalex.org/W2415125453","https://openalex.org/W4252539920"],"related_works":["https://openalex.org/W2918950440","https://openalex.org/W6967049144","https://openalex.org/W4255101189","https://openalex.org/W2796606721","https://openalex.org/W2338052812","https://openalex.org/W2148638409","https://openalex.org/W1986869439","https://openalex.org/W2185817897","https://openalex.org/W2000084952","https://openalex.org/W2794218424"],"abstract_inverted_index":{"Ammonia":[0],"liberated":[1],"during":[2,92],"amino":[3],"acid":[4],"catabolism":[5],"in":[6,38,79],"mammals":[7],"is":[8,12,48,103,172],"highly":[9],"neurotoxic":[10],"and":[11,55,87,112,119,165],"detoxified":[13],"by":[14,105,143],"the":[15,19,26,33,51,57,62,127,134],"five":[16],"enzymes":[17,36],"of":[18,30,32,61,69,108,129,150,160,176],"urea":[20,34,63],"cycle":[21,35],"that":[22],"are":[23,83],"expressed":[24],"within":[25,50,157],"liver.":[27],"Inborn":[28],"errors":[29],"each":[31],"occur":[37],"humans.":[39],"Carbamoyl":[40],"phosphate":[41],"synthetase":[42],"I":[43,101,152,179],"(CPSase":[44,153],"I;":[45],"EC":[46],"6.3.4.16)":[47],"located":[49],"inner":[52],"mitochondrial":[53],"matrix":[54],"catalyzes":[56],"initial":[58],"rate-limiting":[59],"step":[60,125],"cycle.":[64],"Unless":[65],"treated,":[66],"complete":[67],"deficiency":[68,102],"CPSase":[70,100,140,151,178],"I,":[71],"a":[72,123,139,173],"rare":[73],"autosomal":[74],"recessive":[75],"disease,":[76],"causes":[77],"death":[78],"newborn":[80],"infants.":[81],"Survivors":[82],"often":[84],"mentally":[85],"retarded":[86],"suffer":[88],"frequent":[89],"hyperammonemic":[90],"crises":[91],"intercurrent":[93],"illness":[94],"or":[95,116],"other":[96],"catabolic":[97],"stresses.":[98],"Biochemically,":[99],"characterized":[104],"high":[106],"levels":[107],"blood":[109],"ammonia,":[110],"glutamine,":[111],"alanine,":[113],"with":[114,147,162],"low":[115],"absent":[117],"citrulline":[118],"arginine":[120],"levels.":[121],"As":[122],"first":[124],"toward":[126],"development":[128],"gene":[130,144],"therapy":[131],"directed":[132],"to":[133],"hepatocyte,":[135],"we":[136],"have":[137],"generated":[138],"I-deficient":[141],"mouse":[142],"targeting.":[145],"Mice":[146],"homozygous":[148],"disruption":[149],"[-/-]":[154],"mice)":[155],"die":[156],"36":[158],"hours":[159],"birth":[161],"overwhelming":[163],"hyperammonemia,":[164],"without":[166],"significant":[167],"liver":[168],"pathology.":[169],"This":[170],"animal":[171],"good":[174],"model":[175],"human":[177],"deficiency.":[180]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1},{"year":2017,"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":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
