{"id":"https://openalex.org/W1988787","doi":null,"title":"Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.","display_name":"Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.","publication_year":1999,"publication_date":"1999-09-01","ids":{"openalex":"https://openalex.org/W1988787","mag":"1988787","pmid":"https://pubmed.ncbi.nlm.nih.gov/10477465"},"language":"en","primary_location":{"id":"pmid:10477465","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10477465","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":"Haematologica","raw_type":"Letter"},"volume":null,"type":"letter","is_traditional":true,"indexed_in":["doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://discovery.ucl.ac.uk/32243/1/Stewart_Genetic_heterogeneity_of_hereditary.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016794322","display_name":"Angelo Michele Carella","orcid":"https://orcid.org/0000-0002-4967-4204","observed_orcids":["https://orcid.org/0000-0002-4967-4204","https://orcid.org/0000-0002-6710-7393"]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M Carella","raw_affiliation_strings":["IRCCS \u201cCasa Sollievo Della Sofferenza\u201d"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS \u201cCasa Sollievo Della Sofferenza\u201d","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024649853","display_name":"Gordon W. Stewart","orcid":"https://orcid.org/0000-0002-6110-3949","observed_orcids":["https://orcid.org/0000-0002-6110-3949"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G W Stewart","raw_affiliation_strings":["Dipta. di Biomed. deil'Eta Evolutiva"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipta. di Biomed. deil'Eta Evolutiva","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075514937","display_name":"J. F. Ajetunmobi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J F Ajetunmobi","raw_affiliation_strings":["Dipta. di Biomed. deil'Eta Evolutiva"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipta. di Biomed. deil'Eta Evolutiva","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008991955","display_name":"Francesco Schettini","orcid":"https://orcid.org/0000-0001-6561-1919","observed_orcids":["https://orcid.org/0000-0001-6561-1919"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Schettini","raw_affiliation_strings":["Dipta. di Biomed. deil'Eta Evolutiva"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipta. di Biomed. deil'Eta Evolutiva","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047145227","display_name":"Jean Delaunay","orcid":"https://orcid.org/0000-0002-6512-5483","observed_orcids":["https://orcid.org/0000-0002-6512-5483"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Delaunay","raw_affiliation_strings":["Dipta. di Biomed. deil'Eta Evolutiva"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipta. di Biomed. deil'Eta Evolutiva","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022755764","display_name":"Achille Iolascon","orcid":"https://orcid.org/0000-0002-9558-0356","observed_orcids":["https://orcid.org/0000-0002-9558-0356"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Iolascon","raw_affiliation_strings":["Dipta. di Biomed. deil'Eta Evolutiva"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipta. di Biomed. deil'Eta Evolutiva","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"84","issue":"9","first_page":"862","last_page":"3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T10493","display_name":"Ion channel regulation and function","score":0.00139999995008111,"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/T10724","display_name":"Ion Transport and Channel Regulation","score":0.0013000000035390258,"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-stomatocytosis","display_name":"hereditary stomatocytosis","score":0.9919999837875366},{"id":"https://openalex.org/keywords/pseudohyperkalemia","display_name":"pseudohyperkalemia","score":0.9319999814033508},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.9670000076293945},{"id":"https://openalex.org/keywords/hemolytic-anemia","display_name":"hemolytic anemia","score":0.9039999842643738},{"id":"https://openalex.org/keywords/erythrocyte-membrane-permeability","display_name":"erythrocyte membrane permeability","score":0.8479999899864197},{"id":"https://openalex.org/keywords/dominant-inheritance","display_name":"dominant inheritance","score":0.4699999988079071}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4043620526790619},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3963850736618042},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3805912435054779},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2459580898284912}],"mesh":[{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006947","descriptor_name":"Hyperkalemia","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"pmid:10477465","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10477465","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":"Haematologica","raw_type":"Letter"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:32243","doi":null,"is_oa":true,"landing_page_url":"http://discovery.ucl.ac.uk/32243/","pdf_url":"https://discovery.ucl.ac.uk/32243/1/Stewart_Genetic_heterogeneity_of_hereditary.pdf","source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Haematologica , 84 (9) 862 - 863. (1999)","raw_type":"Article"},{"id":"mag:1988787","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10477465","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null},{"id":"pmh:oai:doaj.org/article:a2eddc6919b34edc8a739185d393a60b","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/a2eddc6919b34edc8a739185d393a60b","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Haematologica, Vol 84, Iss 9 (1999)","raw_type":"article"},{"id":"pmh:oai:ricerca.uniba.it:11586/43057","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11586/43057","pdf_url":null,"source":{"id":"https://openalex.org/S4377196296","display_name":"CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5561750","host_organization_name":"University of Bari Aldo Moro","host_organization_lineage":["https://openalex.org/I5561750"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:ricerca.uniba.it:11586/513520","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11586/513520","pdf_url":null,"source":{"id":"https://openalex.org/S4377196296","display_name":"CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5561750","host_organization_name":"University of Bari Aldo Moro","host_organization_lineage":["https://openalex.org/I5561750"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:32243","doi":null,"is_oa":true,"landing_page_url":"http://discovery.ucl.ac.uk/32243/","pdf_url":"https://discovery.ucl.ac.uk/32243/1/Stewart_Genetic_heterogeneity_of_hereditary.pdf","source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Haematologica , 84 (9) 862 - 863. (1999)","raw_type":"Article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8199999928474426,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1988787.pdf","grobid_xml":"https://content.openalex.org/works/W1988787.grobid-xml"},"referenced_works_count":24,"referenced_works":["https://openalex.org/W50823084","https://openalex.org/W1963986562","https://openalex.org/W1970009492","https://openalex.org/W2009328552","https://openalex.org/W2021741624","https://openalex.org/W2021783986","https://openalex.org/W2037267354","https://openalex.org/W2039033706","https://openalex.org/W2044046646","https://openalex.org/W2048919469","https://openalex.org/W2059368463","https://openalex.org/W2069204050","https://openalex.org/W2070788718","https://openalex.org/W2077760013","https://openalex.org/W2080585365","https://openalex.org/W2118730695","https://openalex.org/W2149651085","https://openalex.org/W2151491689","https://openalex.org/W2160423628","https://openalex.org/W2314171646","https://openalex.org/W2335421257","https://openalex.org/W2470574063","https://openalex.org/W4245830997","https://openalex.org/W4299563856"],"related_works":["https://openalex.org/W2053888066","https://openalex.org/W6991384042","https://openalex.org/W1968283387","https://openalex.org/W1970009492","https://openalex.org/W2761925733","https://openalex.org/W2076506108","https://openalex.org/W110573429","https://openalex.org/W2461996613","https://openalex.org/W7217315076","https://openalex.org/W2435711728"],"abstract_inverted_index":{"The":[0,24],"hereditary":[1],"stomatocytoses":[2],"(HSt)":[3],"are":[4,27],"a":[5,31],"group":[6],"of":[7],"rare,":[8],"dominantly":[9],"inherited":[10],"hemolytic":[11],"anemias":[12],"showing":[13],"abnormal":[14],"membrane":[15],"permeability":[16],"to":[17,43],"the":[18],"univalent":[19],"cations":[20],"Na+":[21],"and":[22,35],"K+.":[23],"pseudohyperkalemic":[25],"variants":[26],"genetically":[28],"heterogenous":[29],"with":[30],"locus":[32],"on":[33],"16q23":[34],"at":[36],"least":[37],"one":[38],"additional":[39],"locus,":[40],"which":[41],"remains":[42],"be":[44],"mapped.":[45]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
