{"id":"https://openalex.org/W1968300672","doi":"https://doi.org/10.1172/jci114947","title":"Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.","display_name":"Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.","publication_year":1990,"publication_date":"1990-12-01","ids":{"openalex":"https://openalex.org/W1968300672","doi":"https://doi.org/10.1172/jci114947","mag":"1968300672","pmid":"https://pubmed.ncbi.nlm.nih.gov/2254461","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/329849"},"language":"en","primary_location":{"id":"doi:10.1172/jci114947","doi":"https://doi.org/10.1172/jci114947","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci114947","pdf_url":"http://www.jci.org/articles/view/114947/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jci.org/articles/view/114947/files/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035996420","display_name":"Thomas A. Waldmann","orcid":"https://orcid.org/0000-0003-4500-6660","observed_orcids":["https://orcid.org/0000-0003-4500-6660"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T A Waldmann","raw_affiliation_strings":["Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103343760","display_name":"William D. Terry","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W D Terry","raw_affiliation_strings":["Damon Biotech, Needham Heights, MA 02194","Metabolism Branch, Building 10, Room 4N1 15, National Cancer Institute, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Damon Biotech, Needham Heights, MA 02194","institution_ids":[]},{"raw_affiliation_string":"Metabolism Branch, Building 10, Room 4N1 15, National Cancer Institute, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5200,"currency":"USD","value_usd":5200},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":101,"citation_normalized_percentile":{"value":0.08188699,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"86","issue":"6","first_page":"2093","last_page":"2098"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.40380001068115234,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.40380001068115234,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.1200999990105629,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.07280000299215317,"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/albumin-catabolism","display_name":"albumin catabolism","score":0.828000009059906},{"id":"https://openalex.org/keywords/igg-catabolism","display_name":"IgG catabolism","score":0.921999990940094},{"id":"https://openalex.org/keywords/fractional-catabolic-rate","display_name":"fractional catabolic rate","score":0.7699999809265137},{"id":"https://openalex.org/keywords/igg-synthesis","display_name":"IgG synthesis","score":0.48899999260902405},{"id":"https://openalex.org/keywords/first-cousin-marriage","display_name":"first cousin marriage","score":0.7850000262260437},{"id":"https://openalex.org/keywords/chemical-diabetes","display_name":"chemical diabetes","score":0.5389999747276306},{"id":"https://openalex.org/keywords/skeletal-deformities","display_name":"skeletal deformities","score":0.9259999990463257},{"id":"https://openalex.org/keywords/hypoproteinemia","display_name":"hypoproteinemia","score":0.5479999780654907}],"concepts":[{"id":"https://openalex.org/C2776125364","wikidata":"https://www.wikidata.org/wiki/Q169219","display_name":"Albumin","level":2,"score":0.7779891490936279},{"id":"https://openalex.org/C2777140744","wikidata":"https://www.wikidata.org/wiki/Q1036403","display_name":"Hypoproteinemia","level":2,"score":0.7536189556121826},{"id":"https://openalex.org/C96942376","wikidata":"https://www.wikidata.org/wiki/Q21130714","display_name":"Catabolism","level":3,"score":0.7418028116226196},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.7386852502822876},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.7282374501228333},{"id":"https://openalex.org/C165616093","wikidata":"https://www.wikidata.org/wiki/Q424232","display_name":"Serum albumin","level":2,"score":0.5625121593475342},{"id":"https://openalex.org/C2780898057","wikidata":"https://www.wikidata.org/wiki/Q79448","display_name":"Immunoglobulin G","level":3,"score":0.47155332565307617},{"id":"https://openalex.org/C2779561371","wikidata":"https://www.wikidata.org/wiki/Q570197","display_name":"Proteinuria","level":3,"score":0.45823007822036743},{"id":"https://openalex.org/C2780514984","wikidata":"https://www.wikidata.org/wiki/Q17146775","display_name":"Hypergammaglobulinemia","level":3,"score":0.44722098112106323},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.3949933350086212},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.36143454909324646},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.35586804151535034},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3482212424278259},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3213167190551758},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.25045937299728394}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007070","descriptor_name":"Immunoglobulin A","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007070","descriptor_name":"Immunoglobulin A","qualifier_ui":"Q000493","qualifier_name":"pharmacokinetics","is_major_topic":false},{"descriptor_ui":"D007074","descriptor_name":"Immunoglobulin G","qualifier_ui":"Q000493","qualifier_name":"pharmacokinetics","is_major_topic":false},{"descriptor_ui":"D007136","descriptor_name":"Immunoglobulins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D007136","descriptor_name":"Immunoglobulins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008661","descriptor_name":"Metabolism, Inborn Errors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012709","descriptor_name":"Serum Albumin","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D012709","descriptor_name":"Serum Albumin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012709","descriptor_name":"Serum Albumin","qualifier_ui":"Q000493","qualifier_name":"pharmacokinetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1172/jci114947","doi":"https://doi.org/10.1172/jci114947","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci114947","pdf_url":"http://www.jci.org/articles/view/114947/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:329849","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/329849","pdf_url":null,"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":"J Clin Invest","raw_type":"Text"},{"id":"pmid:2254461","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2254461","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":"The Journal of clinical investigation","raw_type":"Case Reports"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.857.328","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.857.328","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://dm5migu4zj3pb.cloudfront.net/manuscripts/114000/114947/JCI90114947.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1172/jci114947","doi":"https://doi.org/10.1172/jci114947","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci114947","pdf_url":"http://www.jci.org/articles/view/114947/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.6899999976158142,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1968300672.pdf","grobid_xml":"https://content.openalex.org/works/W1968300672.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W81571208","https://openalex.org/W1502953431","https://openalex.org/W1533841403","https://openalex.org/W1804793262","https://openalex.org/W1978668699","https://openalex.org/W2015762825","https://openalex.org/W2016112355","https://openalex.org/W2018938367","https://openalex.org/W2021196599","https://openalex.org/W2030261750","https://openalex.org/W2037696837","https://openalex.org/W2070993621","https://openalex.org/W2086701869","https://openalex.org/W2111620922","https://openalex.org/W2133140368","https://openalex.org/W2142280711","https://openalex.org/W2340646299","https://openalex.org/W2468921979","https://openalex.org/W2771469115","https://openalex.org/W2942316447","https://openalex.org/W4290751260","https://openalex.org/W4376860347","https://openalex.org/W6638145254"],"related_works":["https://openalex.org/W2336040547","https://openalex.org/W2411123943","https://openalex.org/W2410058317","https://openalex.org/W4239524313","https://openalex.org/W4230401866","https://openalex.org/W2094520010","https://openalex.org/W2914031387","https://openalex.org/W1968529402","https://openalex.org/W2026060373","https://openalex.org/W2147533816"],"abstract_inverted_index":{"The":[0,48,61,75],"metabolism":[1,49],"of":[2,12,36,50,67,73,102,136,187,203],"albumin":[3,43,54,163,190],"and":[4,21,39,42,45,53,64,100,123,189,215],"IgG":[5,37,52,68,76,86,188],"was":[6,55,88,131],"investigated":[7],"in":[8,31,57,195,209],"two":[9,59],"siblings,":[10],"products":[11],"a":[13,16,22,28,177,193,200,216],"first-cousin":[14],"marriage,":[15],"female":[17],"aged":[18,24],"34":[19],"yr":[20],"male":[23],"17,":[25],"who":[26],"had":[27,115,159],"marked":[29],"reduction":[30],"their":[32,91],"respective":[33,92],"serum":[34,185],"concentrations":[35,186],"(1.3":[38],"3.1":[40],"mg/ml)":[41],"(19":[44],"21":[46],"mg/ml).":[47],"radioiodinated":[51],"studied":[56],"the":[58,81,85,103,113,143],"patients.":[60],"total":[62,117],"circulating":[63,148],"body":[65,118],"pools":[66],"were":[69,79],"less":[70],"than":[71],"28%":[72],"normal.":[74],"synthetic":[77,121],"rates":[78,95,127],"within":[80],"normal":[82,120,160],"range.":[83],"However,":[84],"survival":[87,202],"short,":[89],"with":[90,212],"fractional":[93,125],"catabolic":[94,126],"increased":[96,124],"fivefold":[97],"to":[98,199],"31%":[99],"36%":[101],"intravenous":[104],"pool":[105],"per":[106],"day":[107],"(normal,":[108],"6.7":[109],"+/-":[110],"2%/d).":[111],"Furthermore,":[112,156],"patients":[114,144,158],"reduced":[116,184],"pools,":[119],"rates,":[122],"for":[128],"albumin.":[129,155],"There":[130],"no":[132],"proteinuria":[133],"or":[134,138,154],"abnormality":[135],"renal":[137],"liver":[139],"function.":[140],"In":[141],"addition,":[142],"did":[145],"not":[146],"have":[147,176],"antibodies":[149],"directed":[150],"toward":[151],"IgG,":[152],"IgA,":[153],"both":[157],"fecal":[161],"51Cr-labeled":[162],"tests,":[164],"thus":[165],"excluding":[166],"excessive":[167],"gastrointestinal":[168],"protein":[169],"loss.":[170],"We":[171],"propose":[172],"that":[173,206],"these":[174,204],"siblings":[175],"previously":[178],"unrecognized":[179],"familial":[180],"disorder":[181],"characterized":[182],"by":[183,192],"caused":[191],"defect":[194],"endogenous":[196],"catabolism,":[197],"leading":[198],"short":[201],"proteins":[205],"is":[207],"associated":[208],"this":[210],"family":[211],"chemical":[213],"diabetes":[214],"skeletal":[217],"deformity.":[218]},"counts_by_year":[{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
