{"id":"https://openalex.org/W67578417","doi":null,"title":"[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].","display_name":"[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].","publication_year":2010,"publication_date":"2010-03-01","ids":{"openalex":"https://openalex.org/W67578417","mag":"67578417","pmid":"https://pubmed.ncbi.nlm.nih.gov/20540435"},"language":"hr","primary_location":{"id":"pmid:20540435","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20540435","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":"Lijecnicki vjesnik","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/A5057136267","display_name":"Jasenka Ille","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I138937732","display_name":"University Hospital Centre Zagreb","ror":"https://ror.org/00r9vb833","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I138937732"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Jasenka Ille","raw_affiliation_strings":["Klinika za pedijatriju Medicinskog fakulteta Sveucilista u Zagrebu, KBC Zagreb"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Klinika za pedijatriju Medicinskog fakulteta Sveucilista u Zagrebu, KBC Zagreb","institution_ids":["https://openalex.org/I138937732"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015039879","display_name":"Nata\u0161a Rojni\u0107 Putarek","orcid":"https://orcid.org/0000-0002-6057-6373","observed_orcids":["https://orcid.org/0000-0002-6057-6373"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Natasa Rojni\u0107 Putarek","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050701774","display_name":"Ana Radica","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ana Radica","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060736941","display_name":"Andrew Tym Hattersley","orcid":"https://orcid.org/0000-0001-5620-473X","observed_orcids":["https://orcid.org/0000-0001-5620-473X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andrew Hattersley","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084653587","display_name":"Sian Ellard","orcid":"https://orcid.org/0000-0002-7620-5526","observed_orcids":["https://orcid.org/0000-0002-7620-5526"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sian Ellard","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5088270279","display_name":"Miroslav Dumi\u0107","orcid":"https://orcid.org/0000-0003-3369-7847","observed_orcids":["https://orcid.org/0000-0003-3369-7847"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miroslav Dumi\u0107","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"132","issue":"3-4","first_page":"90","last_page":"3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10839","display_name":"Pancreatic function and diabetes","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10839","display_name":"Pancreatic function and diabetes","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11171","display_name":"Diabetes and associated disorders","score":0.01860000006854534,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10493","display_name":"Ion channel regulation and function","score":0.0066999997943639755,"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/neonatal-diabetes-mellitus","display_name":"neonatal diabetes","score":0.9160000085830688},{"id":"https://openalex.org/keywords/permanent-neonatal-diabetes-mellitus","display_name":"permanent neonatal diabetes","score":0.9179999828338623},{"id":"https://openalex.org/keywords/kcnj11-mutation","display_name":"KCNJ11 mutation","score":0.9110000133514404},{"id":"https://openalex.org/keywords/kir6-2","display_name":"Kir6.2","score":0.9750000238418579},{"id":"https://openalex.org/keywords/atp-sensitive-potassium-channels","display_name":"ATP-sensitive potassium channels","score":0.7879999876022339},{"id":"https://openalex.org/keywords/sulphonylurea-therapy","display_name":"sulphonylurea therapy","score":0.7860000133514404},{"id":"https://openalex.org/keywords/glibenclamide","display_name":"glibenclamide","score":0.9879999756813049},{"id":"https://openalex.org/keywords/glucose-stimulated-insulin-secretion","display_name":"glucose-stimulated insulin secretion","score":0.9139999747276306},{"id":"https://openalex.org/keywords/beta-cell-function","display_name":"beta-cell function","score":0.4359999895095825}],"concepts":[{"id":"https://openalex.org/C2777289354","wikidata":"https://www.wikidata.org/wiki/Q14912054","display_name":"Kir6.2","level":4,"score":0.7720988392829895},{"id":"https://openalex.org/C2779768347","wikidata":"https://www.wikidata.org/wiki/Q420626","display_name":"Glibenclamide","level":3,"score":0.7362576723098755},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6987700462341309},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.6972432136535645},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.6685124039649963},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5699830651283264},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5405133962631226},{"id":"https://openalex.org/C2776828364","wikidata":"https://www.wikidata.org/wiki/Q1767180","display_name":"Beta cell","level":4,"score":0.524243175983429},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4600427448749542},{"id":"https://openalex.org/C83743174","wikidata":"https://www.wikidata.org/wiki/Q423778","display_name":"Potassium channel","level":2,"score":0.4335884153842926},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.36826878786087036},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20757904648780823},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.18991121649742126},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18899017572402954},{"id":"https://openalex.org/C165220095","wikidata":"https://www.wikidata.org/wiki/Q207524","display_name":"Islet","level":3,"score":0.07391968369483948}],"mesh":[{"descriptor_ui":"D000099161","descriptor_name":"Kcnj11 Channel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000284","descriptor_name":"Administration, Oral","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005905","descriptor_name":"Glyburide","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007004","descriptor_name":"Hypoglycemic Agents","qualifier_ui":"Q000008","qualifier_name":"administration & dosage","is_major_topic":true},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:20540435","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20540435","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":"Lijecnicki vjesnik","raw_type":"Case Reports"},{"id":"mag:67578417","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20540435","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":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"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/W1994885259","https://openalex.org/W1265238714","https://openalex.org/W2009708305","https://openalex.org/W4318962039","https://openalex.org/W2122528303","https://openalex.org/W2407423842","https://openalex.org/W2943933641","https://openalex.org/W2497858275","https://openalex.org/W2414499454","https://openalex.org/W3174148359"],"abstract_inverted_index":{"Neonatal":[0],"diabetes":[1,27,164],"mellitus":[2,28],"is":[3,155,182],"a":[4,64,103,136],"rare":[5],"metabolic":[6],"disorder":[7],"with":[8,106,163],"an":[9],"estimated":[10],"incidence":[11],"of":[12,21,40,55,97,111,123,150,168],"1:300.000":[13],"to":[14,82,147,157],"400.000":[15],"newborns,":[16],"and":[17,83,87,119,130],"less":[18],"than":[19],"50%":[20],"the":[22,34,41,51,94,109,121,133,185],"neonates":[23],"have":[24],"permanent":[25],"neonatal":[26],"(PNDM).":[29],"Recently,":[30],"activating":[31,139],"mutation":[32],"in":[33,67],"KCNJ11":[35,126],"gene":[36,127],"encoding":[37],"Kir6.2":[38],"subunit":[39],"adenosin":[42],"triphosphate-sensitive":[43],"potassium":[44],"(K(ATP))":[45],"channel":[46,61],"has":[47],"been":[48],"described":[49],"as":[50,99],"most":[52],"frequent":[53],"cause":[54],"PNDM.":[56],"Under":[57],"physiological":[58],"circumstances":[59],"K(ATP)":[60,85,179],"closure":[62],"plays":[63],"central":[65],"role":[66],"glucose-stimulated":[68],"insulin":[69,78,115],"secretion":[70,79],"from":[71],"pancreatic":[72],"beta":[73,90],"cells.":[74],"Sulphonylurea":[75],"drugs":[76],"stimulate":[77,93],"by":[80],"binding":[81],"closing":[84],"channels":[86],"thus":[88],"bypassing":[89],"cell":[91],"metabolism":[92],"same":[95],"chain":[96],"reactions":[98],"glucose.":[100],"We":[101],"describe":[102],"boy":[104,134],"diagnosed":[105,162],"PNDM":[107],"at":[108,120],"age":[110,122],"3":[112],"months":[113,167],"when":[114],"therapy":[116,143],"was":[117,128,144],"started,":[118],"4.5":[124],"years":[125],"sequenced":[129],"found":[131],"that":[132,159],"carried":[135],"de":[137],"novo":[138],"R201H":[140],"mutation.":[141],"Insulin":[142],"successfully":[145],"switched":[146],"low":[148],"doses":[149],"oral":[151],"glibenclamide.":[152],"Accordingly,":[153],"it":[154],"important":[156],"emphasize":[158],"every":[160],"person":[161],"before":[165],"six":[166],"life,":[169],"however":[170],"old":[171],"they":[172],"actually":[173],"are,":[174],"should":[175],"be":[176],"tested":[177],"for":[178],"mutations":[180],"which":[181],"offered":[183],"via":[184],"website":[186],"www.diabetesgenes.org.":[187]},"counts_by_year":[{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
