{"id":"https://openalex.org/W46752602","doi":null,"title":"Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0).","display_name":"Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0).","publication_year":1987,"publication_date":"1987-03-01","ids":{"openalex":"https://openalex.org/W46752602","mag":"46752602","pmid":"https://pubmed.ncbi.nlm.nih.gov/3568462"},"language":"en","primary_location":{"id":"pmid:3568462","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3568462","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":"Clinical nephrology","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5030745767","display_name":"Barry S. Oemar","orcid":"https://orcid.org/0000-0003-1996-5817","observed_orcids":["https://orcid.org/0000-0003-1996-5817"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B S Oemar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113451991","display_name":"D. J. Byrd","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D J Byrd","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5108452663","display_name":"Johannes Brodehl","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Brodehl","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2323,"has_fulltext":false,"cited_by_count":55,"citation_normalized_percentile":{"value":0.41742215,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"27","issue":"3","first_page":"156","last_page":"60"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10724","display_name":"Ion Transport and Channel Regulation","score":0.5922999978065491,"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/T10724","display_name":"Ion Transport and Channel Regulation","score":0.5922999978065491,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.05730000138282776,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.044599998742341995,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/renal-glycosuria","display_name":"renal glycosuria","score":0.8830000162124634},{"id":"https://openalex.org/keywords/glucose-clearance","display_name":"glucose clearance","score":0.6610000133514404},{"id":"https://openalex.org/keywords/inulin-clearance","display_name":"inulin clearance","score":0.7730000019073486},{"id":"https://openalex.org/keywords/intravenous-glucose-tolerance","display_name":"intravenous glucose tolerance","score":0.5759999752044678},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8610000014305115},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7630000114440918}],"concepts":[{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.8157466650009155},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.8054904341697693},{"id":"https://openalex.org/C90466245","wikidata":"https://www.wikidata.org/wiki/Q7312490","display_name":"Renal glucose reabsorption","level":4,"score":0.7521671056747437},{"id":"https://openalex.org/C56906281","wikidata":"https://www.wikidata.org/wiki/Q4391435","display_name":"Reabsorption","level":3,"score":0.7362909913063049},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6525241136550903},{"id":"https://openalex.org/C159641895","wikidata":"https://www.wikidata.org/wiki/Q108377937","display_name":"Renal function","level":2,"score":0.6415125131607056},{"id":"https://openalex.org/C2779617510","wikidata":"https://www.wikidata.org/wiki/Q1739905","display_name":"Ketonuria","level":3,"score":0.5615942478179932},{"id":"https://openalex.org/C2781214132","wikidata":"https://www.wikidata.org/wiki/Q1136213","display_name":"Glycosuria","level":3,"score":0.5402012467384338},{"id":"https://openalex.org/C2779742124","wikidata":"https://www.wikidata.org/wiki/Q201552","display_name":"Inulin","level":2,"score":0.5196160674095154},{"id":"https://openalex.org/C161457703","wikidata":"https://www.wikidata.org/wiki/Q3317402","display_name":"Renal physiology","level":3,"score":0.45570310950279236},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.3118595778942108},{"id":"https://openalex.org/C2777180221","wikidata":"https://www.wikidata.org/wiki/Q3025883","display_name":"Type 2 diabetes","level":3,"score":0.25847092270851135},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.2578088641166687},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.2093660831451416},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.12060126662254333}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000596","descriptor_name":"Amino Acids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005947","descriptor_name":"Glucose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D005951","descriptor_name":"Glucose Tolerance Test","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006030","descriptor_name":"Glycosuria, Renal","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D006030","descriptor_name":"Glycosuria, Renal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006030","descriptor_name":"Glycosuria, Renal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007684","descriptor_name":"Kidney Tubules","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:3568462","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3568462","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":"Clinical nephrology","raw_type":"Case Reports"},{"id":"mag:46752602","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3568462","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9074000120162964}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1989796699","https://openalex.org/W2130274258","https://openalex.org/W4230759001","https://openalex.org/W1543842689","https://openalex.org/W4300526788","https://openalex.org/W4229720906","https://openalex.org/W2129123362","https://openalex.org/W2114376908","https://openalex.org/W1977446812","https://openalex.org/W2083509163"],"abstract_inverted_index":{"Primary":[0],"renal":[1,167,204],"glucosuria":[2,44,168],"is":[3,193],"an":[4],"inherited":[5],"defect":[6],"of":[7,35,45,52,135,159,165],"tubular":[8,36,146,157],"glucose":[9,37,66,82,87,105,113,119,128,133,138,147],"reabsorption":[10,148,158],"and":[11,17,49,62,67,102,145,174,188,195],"usually":[12],"classified":[13],"in":[14,26,141,156],"type":[15,18,25,164,180,202],"A":[16],"B.":[19],"We":[20],"now":[21],"observed":[22],"a":[23,27,32,42,131],"new":[24,163],"15-year-old":[28],"boy":[29],"who":[30],"had":[31,41,70],"complete":[33],"absence":[34],"reabsorption.":[38],"His":[39],"father":[40],"daily":[43,76],"1.1":[46],"g/1.73":[47,54,60,64,80],"m2":[48,61,65,81,101,110],"his":[50,197],"mother":[51],"2.7":[53],"m2.":[55],"Two":[56],"siblings":[57],"excreted":[58,75],"0.4":[59],"0.3":[63],"one":[68],"sister":[69],"no":[71,154],"glucosuria.":[72,182,205],"The":[73,92,183],"proband":[74,192],"136":[77],"to":[78,124,177],"160":[79],"accompanied":[83],"by":[84],"normal":[85],"blood":[86,112,132],"levels":[88,114],"between":[89],"75-105":[90],"mg/dl.":[91,117],"glomerular":[93],"filtration":[94],"rate":[95],"(inulin":[96],"clearance)":[97],"was":[98,107,121,149,169],"148-153":[99],"ml/min/1.73":[100,109],"the":[103,142,191],"endogenous":[104],"clearance":[106,120,139],"112-160":[108],"when":[111],"were":[115,153],"72-82":[116],"Thus,":[118],"nearly":[122],"identical":[123],"inulin-clearance.":[125],"After":[126],"intravenous":[127],"loading":[129],"with":[130],"concentration":[134],"261-342":[136],"mg/dl,":[137],"remained":[140],"same":[143],"range":[144],"virtually":[150],"absent.":[151],"There":[152],"disturbances":[155],"other":[160],"substrates.":[161],"This":[162],"primary":[166],"not":[170],"recognized":[171],"thus":[172],"far,":[173],"we":[175],"propose":[176],"call":[178],"it":[179],"O":[181,203],"family":[184],"tree":[185],"revealed":[186],"consanguinity":[187],"most":[189],"probably":[190],"homozygous":[194],"both":[196],"parents":[198],"are":[199],"heterozygous":[200],"for":[201]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
