{"id":"https://openalex.org/W4285383271","doi":"https://doi.org/10.15605/jafes.036/s101","title":"CASE SERIES OF NEONATAL DIABETES WITH KCNJ11 MUTATION_ TRANSFER FROM INSULIN TO SULPHONYLUREA","display_name":"CASE SERIES OF NEONATAL DIABETES WITH KCNJ11 MUTATION_ TRANSFER FROM INSULIN TO SULPHONYLUREA","publication_year":2021,"publication_date":"2021-07-28","ids":{"openalex":"https://openalex.org/W4285383271","doi":"https://doi.org/10.15605/jafes.036/s101"},"language":"en","primary_location":{"id":"doi:10.15605/jafes.036/s101","doi":"https://doi.org/10.15605/jafes.036/s101","is_oa":true,"landing_page_url":"https://doi.org/10.15605/jafes.036/s101","pdf_url":"https://asean-endocrinejournal.org/index.php/JAFES/article/download/1559/1997","source":{"id":"https://openalex.org/S2737532273","display_name":"Journal of the ASEAN Federation of Endocrine Societies","issn_l":"0857-1074","issn":["0857-1074","2308-118X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","medline","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310319565","host_organization_name":"ASEAN Federation of Endocrine Societies","host_organization_lineage":["https://openalex.org/P4310319565"],"host_organization_lineage_names":["ASEAN Federation of Endocrine Societies"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the ASEAN Federation of Endocrine Societies","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://asean-endocrinejournal.org/index.php/JAFES/article/download/1559/1997","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076815323","display_name":"Sze Teik Teoh","orcid":"https://orcid.org/0000-0003-1419-1541","observed_orcids":["https://orcid.org/0000-0003-1419-1541"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sze Teik Teoh","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001778795","display_name":"Jeanne Sze Lyn Wong","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jeanne Sze Lyn Wong","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053030868","display_name":"Nalini M Selveindran","orcid":"https://orcid.org/0000-0003-3925-422X","observed_orcids":["https://orcid.org/0000-0003-3925-422X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nalini Selveindran","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028955004","display_name":"Noor Arliena Mat Amin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Noor Arliena Mat Amin","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049710961","display_name":"Annie Leong","orcid":"https://orcid.org/0000-0002-8798-2072","observed_orcids":["https://orcid.org/0000-0002-8798-2072"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Annie Leong","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015530553","display_name":"Pian Pian Tee","orcid":"https://orcid.org/0000-0003-4607-3662","observed_orcids":["https://orcid.org/0000-0003-4607-3662"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pian Pian Tee","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025505971","display_name":"Hooi Peng Cheng","orcid":"https://orcid.org/0000-0002-6477-0798","observed_orcids":["https://orcid.org/0000-0002-6477-0798"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hooi Peng Cheng","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068729565","display_name":"Cheng Guang Gan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cheng Guang Gan","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061817417","display_name":"L Alexis Anand","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Alexis Anand","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061259791","display_name":"Tong Wooi Ch\u2019ng","orcid":"https://orcid.org/0000-0002-6708-745X","observed_orcids":["https://orcid.org/0000-0002-6708-745X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tong Wooi Ch'ng","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101444846","display_name":"Mastura Ibrahim","orcid":"https://orcid.org/0000-0003-0668-3909","observed_orcids":["https://orcid.org/0000-0003-0668-3909"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mastura Ibrahim","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074347030","display_name":"Janet Yeow Hua Hong","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Janet Yeow Hua Hong","raw_affiliation_strings":["Hospital Putrajaya, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Putrajaya, Malaysia","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"37","issue":"2021","first_page":"67","last_page":"67"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10839","display_name":"Pancreatic function and diabetes","score":0.8432999849319458,"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":0.8432999849319458,"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":0.08640000224113464,"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":0.017400000244379044,"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/permanent-neonatal-diabetes-mellitus","display_name":"permanent neonatal diabetes","score":0.8849999904632568},{"id":"https://openalex.org/keywords/kcnj11-mutation","display_name":"KCNJ11 mutation","score":0.984000027179718},{"id":"https://openalex.org/keywords/kir6-2","display_name":"Kir6.2","score":0.8669999837875366},{"id":"https://openalex.org/keywords/sulphonylurea-therapy","display_name":"sulphonylurea therapy","score":0.7950000166893005},{"id":"https://openalex.org/keywords/glibenclamide","display_name":"glibenclamide","score":0.8550000190734863},{"id":"https://openalex.org/keywords/gliclazide","display_name":"gliclazide","score":0.9810000061988831},{"id":"https://openalex.org/keywords/atp-sensitive-potassium-channels","display_name":"ATP-sensitive potassium channels","score":0.7009999752044678},{"id":"https://openalex.org/keywords/diabetic-ketoacidosis","display_name":"diabetic ketoacidosis","score":0.7329999804496765},{"id":"https://openalex.org/keywords/delayed-motor-development","display_name":"delayed motor development","score":0.41200000047683716},{"id":"https://openalex.org/keywords/hba1c","display_name":"HbA1c","score":0.6650000214576721},{"id":"https://openalex.org/keywords/c-peptide","display_name":"C-peptide","score":0.9909999966621399},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.39800000190734863},{"id":"https://openalex.org/keywords/neonatal-hyperglycemia","display_name":"neonatal hyperglycemia","score":0.5410000085830688},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.4480000138282776},{"id":"https://openalex.org/keywords/hypoglycemia","display_name":"hypoglycemia","score":0.7289999723434448}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.87483811378479},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6909090876579285},{"id":"https://openalex.org/C2777289354","wikidata":"https://www.wikidata.org/wiki/Q14912054","display_name":"Kir6.2","level":4,"score":0.5995734930038452},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.5503536462783813},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5182802081108093},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.48975419998168945},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.46462541818618774},{"id":"https://openalex.org/C2776731943","wikidata":"https://www.wikidata.org/wiki/Q1123139","display_name":"Ketosis","level":3,"score":0.4205556809902191},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3439294099807739},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.32343000173568726},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.2652982473373413},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20183011889457703},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.14794856309890747},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.07678523659706116}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.15605/jafes.036/s101","doi":"https://doi.org/10.15605/jafes.036/s101","is_oa":true,"landing_page_url":"https://doi.org/10.15605/jafes.036/s101","pdf_url":"https://asean-endocrinejournal.org/index.php/JAFES/article/download/1559/1997","source":{"id":"https://openalex.org/S2737532273","display_name":"Journal of the ASEAN Federation of Endocrine Societies","issn_l":"0857-1074","issn":["0857-1074","2308-118X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","medline","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310319565","host_organization_name":"ASEAN Federation of Endocrine Societies","host_organization_lineage":["https://openalex.org/P4310319565"],"host_organization_lineage_names":["ASEAN Federation of Endocrine Societies"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the ASEAN Federation of Endocrine Societies","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.15605/jafes.036/s101","doi":"https://doi.org/10.15605/jafes.036/s101","is_oa":true,"landing_page_url":"https://doi.org/10.15605/jafes.036/s101","pdf_url":"https://asean-endocrinejournal.org/index.php/JAFES/article/download/1559/1997","source":{"id":"https://openalex.org/S2737532273","display_name":"Journal of the ASEAN Federation of Endocrine Societies","issn_l":"0857-1074","issn":["0857-1074","2308-118X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","medline","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310319565","host_organization_name":"ASEAN Federation of Endocrine Societies","host_organization_lineage":["https://openalex.org/P4310319565"],"host_organization_lineage_names":["ASEAN Federation of Endocrine Societies"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the ASEAN Federation of Endocrine Societies","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9907000064849854,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4285383271.pdf","grobid_xml":"https://content.openalex.org/works/W4285383271.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4318962039","https://openalex.org/W2313113438","https://openalex.org/W2122528303","https://openalex.org/W3174148359","https://openalex.org/W1265238714","https://openalex.org/W2889903622","https://openalex.org/W2943933641","https://openalex.org/W2003555183","https://openalex.org/W2326842950","https://openalex.org/W1946668706"],"abstract_inverted_index":{"INTRODUCTION":[0],"Permanent":[1],"neonatal":[2],"diabetes,":[3],"presenting":[4],"before":[5],"6":[6],"months":[7],"old,":[8],"signifies":[9],"a":[10,51,130,266],"monogenic":[11],"cause.":[12],"Mostly,":[13],"it":[14,49],"involves":[15],"mutation":[16],"of":[17,25,60,65,154,180,306],"KCNJ11":[18,132],"gene":[19],"that":[20],"encodes":[21],"the":[22,26,58,144,152,161,254,258,281,290,304,307],"Kir6.2":[23],"subunit":[24],"ATP-sensitive":[27],"potassium":[28],"channel":[29],"(KATP).":[30],"The":[31],"landmark":[32],"findings":[33],"by":[34,50,147],"Gloyn":[35],"et":[36],"al":[37],"(NEJM":[38],"2004)":[39],"on":[40,143],"oral":[41,293],"sulphonylurea":[42],"(SU)":[43],"binding":[44],"to":[45,138,157,193,196,200,208,221,227,236,246,260,262,279,292],"KATP":[46],"and":[47,121,166,182,198,264,275,298,301],"closing":[48],"non-ATP":[52],"dependent":[53],"route":[54],"has":[55],"markedly":[56],"changed":[57],"landscape":[59],"management.":[61],"METHODOLOGY":[62],"Cross-sectional":[63],"review":[64],"medical":[66],"records.":[67],"RESULTS":[68],"3":[69],"patients":[70],"(A,":[71],"B,":[72],"C)":[73],"included.":[74],"(A)":[75,85,244,256],"presented":[76],"at":[77,83,112,118,164,168,249],"day":[78],"14,":[79],"while":[80,90],"(B&C)":[81,91,125],"both":[82],"2-month-old.":[84],"had":[86,92,97],"hyperglycemia":[87],"without":[88],"ketosis":[89],"severe":[93],"DKA.":[94],"(B)":[95,216],"also":[96],"seizures":[98],"with":[99,109,135,160,174,283],"delayed":[100],"motor":[101],"development":[102],"(possibly":[103],"intermediate":[104],"DEND).":[105],"All":[106,170],"were":[107,116,126,172,184],"initiated":[108],"subcutaneous":[110],"insulin":[111,175,248],"diagnosis.":[113],"Genetic":[114],"tests":[115],"performed":[117,141],"8-year-old,":[119],"1-year-old,":[120],"5-month-old,":[122],"respectively.":[123,215],"Both":[124],"similarly":[127],"heterozygous":[128],"for":[129,295],"pathogenic":[131],"missense":[133],"variant":[134],"p.(Arg201Cys).":[136],"Transfer":[137],"SU":[139,158,263,294],"was":[140,257],"based":[142],"published":[145],"protocol":[146],"Prof":[148],"Andrew":[149],"Hattersley":[150],"from":[151,191,204,233],"University":[153],"Exeter.":[155],"Time":[156],"varied":[159,232],"slowest":[162],"transfer":[163,261,291],"8-year-9-month-old":[165],"quickest":[167],"1-year-7-month-old.":[169],"transfers":[171],"successful":[173],"weaned":[176],"off.":[177],"Noticeable":[178],"improvement":[179],"HbA1c":[181,189],"C-peptide":[183,202],"demonstrated":[185],"after":[186,253],"12":[187],"weeks.":[188],"decreased":[190],"8%":[192],"5.7%,":[194],"8.9%":[195],"6.2%,":[197],"9.6%":[199],"5.8%;":[201],"improved":[203],"undetected":[205],"(<33":[206],"pmol/L)":[207],"185":[209],"pmol/L,":[210,212,214],"861":[211],"73":[213],"showed":[217],"minimal":[218],"response":[219,226],"initially":[220],"gliclazide":[222],"but":[223],"an":[224],"excellent":[225],"glibenclamide.":[228],"Initial":[229],"glibenclamide":[230],"dose":[231],"0.8":[234],"mg/kg/day":[235],"1.6":[237],"mg/kg/day.":[238],"No":[239],"hypoglycemia":[240],"or":[241],"GI":[242],"complications.":[243],"needed":[245],"restart":[247],"13-year-8-month-old,":[250],"5":[251],"years":[252],"transfer.":[255],"last":[259],"required":[265],"higher":[267],"initial":[268],"dose.":[269],"CONCLUSION":[270],"Neonatal":[271],"diabetes":[272],"warrants":[273],"rapid":[274],"focused":[276],"genetic":[277,287],"analysis":[278],"identify":[280],"genotypes":[282],"modifiable":[284],"outcomes.":[285],"Early":[286],"confirmation":[288],"facilitates":[289],"better":[296],"glycaemic":[297],"neurodevelopmental":[299],"outcomes":[300],"potentially":[302],"improves":[303],"durability":[305],"treatment.":[308]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2022-07-14T00:00:00"}