{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T22:47:40Z","timestamp":1772578060292,"version":"3.50.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T00:00:00Z","timestamp":1606176000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["aaceclinicalcasereports.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["AACE Clinical Case Reports"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1016\/j.aace.2020.11.017","type":"journal-article","created":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T14:00:39Z","timestamp":1609423239000},"page":"65-68","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel \u03b2-Subunit in a Normotensive Adolescent"],"prefix":"10.1016","volume":"7","author":[{"given":"Raven K.","family":"Brower","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida A.","family":"Ghlichloo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Venus","family":"Shabgahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Elsholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram K.","family":"Menon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arpita K.","family":"Vyas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.aace.2020.11.017_bib1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/s00431-011-1581-8","article-title":"Liddle syndrome in a Serbian family and literature review of underlying mutations","volume":"171","author":"Bogdanovi\u0107","year":"2012","journal-title":"Eur J Pediatr"},{"issue":"6","key":"10.1016\/j.aace.2020.11.017_bib2","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1161\/HYPERTENSIONAHA.115.07061","article-title":"In Liddle syndrome, epithelial sodium channel is hyperactive mainly in the early part of the aldosterone-sensitive distal nephron","volume":"67","author":"Nesterov","year":"2016","journal-title":"Hypertension"},{"issue":"3","key":"10.1016\/j.aace.2020.11.017_bib3","doi-asserted-by":"crossref","first-page":"812","DOI":"10.3390\/ijms19030812","article-title":"Liddle syndrome: review of the literature and description of a new case","volume":"19","author":"Tetti","year":"2018","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.aace.2020.11.017_bib4","series-title":"Liddle Syndrome. January 2019","author":"Mubarik","year":"2019"},{"issue":"12","key":"10.1016\/j.aace.2020.11.017_bib5","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1055\/s-0032-1321851","article-title":"11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension","volume":"44","author":"Melcescu","year":"2012","journal-title":"Horm Metab Res"},{"issue":"11","key":"10.1016\/j.aace.2020.11.017_bib6","doi-asserted-by":"crossref","first-page":"3176","DOI":"10.1681\/ASN.2006060570","article-title":"Apparent mineralocorticoid excess: report of six new cases and extensive personal experience","volume":"17","author":"Morineau","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"1","key":"10.1016\/j.aace.2020.11.017_bib7","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1210\/jc.2011-2161","article-title":"The syndrome of 17,20 lyase deficiency","volume":"97","author":"Miller","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"8","key":"10.1016\/j.aace.2020.11.017_bib8","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1097\/01.ASN.0000023430.92674.E5","article-title":"Renal tubular acidosis: the clinical entity","volume":"13","author":"Soriano","year":"2002","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"1","key":"10.1016\/j.aace.2020.11.017_bib9","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1046\/j.1523-1755.1998.00728.x","article-title":"Liddle syndrome: an autosomal dominant form of human hypertension","volume":"53","author":"Warnock","year":"1998","journal-title":"Kidney Int"},{"issue":"3-4","key":"10.1016\/j.aace.2020.11.017_bib10","first-page":"198","article-title":"Potassium-sparing diuretics","volume":"10","author":"Horisberger","year":"1987","journal-title":"Ren Physiol"},{"issue":"2","key":"10.1016\/j.aace.2020.11.017_bib11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1080\/10641963.2017.1334799","article-title":"Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome","volume":"40","author":"Yang","year":"2018","journal-title":"Clin Exp Hypertens"},{"issue":"5","key":"10.1016\/j.aace.2020.11.017_bib12","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1111\/jch.12949","article-title":"Liddle syndrome: clinical and genetic profiles","volume":"19","author":"Cui","year":"2017","journal-title":"J\u00a0Clin Hypertens (Greenwich)"},{"issue":"3","key":"10.1016\/j.aace.2020.11.017_bib13","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0092-8674(94)90250-X","article-title":"Liddle\u2019s syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel","volume":"79","author":"Shimkets","year":"1994","journal-title":"Cell"},{"issue":"6462","key":"10.1016\/j.aace.2020.11.017_bib14","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/367463a0","article-title":"Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits","volume":"367","author":"Canessa","year":"1994","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.aace.2020.11.017_bib15","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.gene.2015.12.061","article-title":"Epithelial sodium channel (ENaC) family: phylogeny, structure-function, tissue distribution, and associated inherited diseases","volume":"579","author":"Hanukoglu","year":"2016","journal-title":"Gene"},{"issue":"1","key":"10.1016\/j.aace.2020.11.017_bib16","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1210\/jc.2004-1027","article-title":"Liddle\u2019s syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit","volume":"90","author":"Furuhashi","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.aace.2020.11.017_bib17","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1053\/ajkd.2001.22072","article-title":"Two sporadic cases of Liddle\u2019s syndrome caused by de novo ENaC mutations","volume":"37","author":"Yamashita","year":"2001","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.aace.2020.11.017_bib18","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.39340","article-title":"Structure of the human epithelial sodium channel by cryo-electron microscopy","volume":"7","author":"Noreng","year":"2018","journal-title":"Elife"},{"issue":"D1","key":"10.1016\/j.aace.2020.11.017_bib19","doi-asserted-by":"crossref","first-page":"D67","DOI":"10.1093\/nar\/gkv1276","article-title":"GenBank","volume":"44","author":"Clark","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.aace.2020.11.017_bib20","unstructured":"Protein [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [1988] \u2013 Accession No. AKI71383.1, SCNN1B, Partial [Synthetic Construct]; [Cited 2019 Dec 2]. https:\/\/Www.Ncbi.Nlm.Nih.Gov\/Protein\/AKI71383.1"}],"container-title":["AACE Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S237606052031018X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S237606052031018X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:31:33Z","timestamp":1762497093000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S237606052031018X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["S237606052031018X"],"URL":"https:\/\/doi.org\/10.1016\/j.aace.2020.11.017","relation":{},"ISSN":["2376-0605"],"issn-type":[{"value":"2376-0605","type":"print"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel \u03b2-Subunit in a Normotensive Adolescent","name":"articletitle","label":"Article Title"},{"value":"AACE Clinical Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.aace.2020.11.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 AACE. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}