{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T20:36:48Z","timestamp":1781901408333,"version":"3.54.5"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T00:00:00Z","timestamp":1372896000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Diabetol"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1007\/s00592-013-0490-x","type":"journal-article","created":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T11:06:56Z","timestamp":1372849616000},"page":"951-957","source":"Crossref","is-referenced-by-count":42,"title":["Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?"],"prefix":"10.1007","volume":"50","author":[{"given":"Valeria","family":"Grasso","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Colombo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Favalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Galderisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Rabbone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gombos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enzo","family":"Bonora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ornella","family":"Massa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Meschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Cerutti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Iafusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Bonfanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Monciotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Barbetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,7,4]]},"reference":[{"key":"490_CR1","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1210\/edrv-13-3-566","volume":"13","author":"SI Taylor","year":"1992","unstructured":"Taylor SI, Cama A, Accili D, Barbetti F, Quon MJ et al (1992) Mutations in the insulin receptor gene. Endocr Rev 13:566\u2013595","journal-title":"Endocr Rev"},{"key":"490_CR2","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1210\/er.2010-0020","volume":"32","author":"RK Semple","year":"2011","unstructured":"Semple RK, Savage DB, Cochran EK, Gorden P, O\u2019Rahilly S (2011) Genetic syndromes of severe insulin resistance. Endocr Rev 32:498\u2013514. doi: 10.1210\/er.2010-0020","journal-title":"Endocr Rev"},{"key":"490_CR3","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1097\/01.md.0000133625.73570.54","volume":"83","author":"C Musso","year":"2004","unstructured":"Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA et al (2004) Clinical course of genetic diseases of the insulin receptor (type A and Rabson\u2013Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore) 83:209\u2013222","journal-title":"Medicine (Baltimore)"},{"key":"490_CR4","doi-asserted-by":"crossref","first-page":"408","DOI":"10.2337\/diab.41.4.408","volume":"41","author":"F Barbetti","year":"1992","unstructured":"Barbetti F, Gejman PV, Taylor SI, Raben N, Cama A et al (1992) Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis. Diabetes 41:408\u2013415","journal-title":"Diabetes"},{"key":"490_CR5","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.otc.2010.09.009","volume":"44","author":"I Bhattacharyya","year":"2011","unstructured":"Bhattacharyya I, Chehal HK (2011) White lesions. Otolaryngol Clin North Am 44:109\u2013131. doi: 10.1016\/j.otc.2010.09.009","journal-title":"Otolaryngol Clin North Am"},{"key":"490_CR6","doi-asserted-by":"crossref","first-page":"7587","DOI":"10.1016\/S0021-9258(17)37327-1","volume":"269","author":"E Wertheimer","year":"1994","unstructured":"Wertheimer E, Barbetti F, Muggeo M, Roth J, Taylor SI (1994) Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor. J Biol Chem 269:7587\u20137592","journal-title":"J Biol Chem"},{"key":"490_CR7","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1093\/hmg\/11.12.1465","volume":"11","author":"N Longo","year":"2002","unstructured":"Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA et al (2002) Genotype\u2013phenotype correlation in inherited severe insulin resistance. Hum Mol Genet 11:1465\u20131475","journal-title":"Hum Mol Genet"},{"key":"490_CR8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.2337\/diab.43.2.247","volume":"43","author":"DE Moller","year":"1994","unstructured":"Moller DE, Cohen O, Yamaguchi Y, Assiz R, Grigorescu F et al (1994) Prevalence of mutations in the receptor gene in subjects with features of type A syndrome of insulin resistance. Diabetes 43:247\u2013255","journal-title":"Diabetes"},{"key":"490_CR9","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.2337\/diabetes.49.7.1264","volume":"49","author":"H Rau","year":"2000","unstructured":"Rau H, Kocova M, O'Rahilly S, Whitehead JP (2000) Naturally occurring aminoacid substitutions at Arg1174 in the human insulin receptor result in differential effects on receptor biosynthesis and hybrid formation, leading to discordant clinical phenotypes. Diabetes 49:1264\u20131268","journal-title":"Diabetes"},{"key":"490_CR10","doi-asserted-by":"crossref","first-page":"e17","DOI":"10.1016\/j.diabres.2010.04.023","volume":"89","author":"M Carrasco de la Fuente","year":"2010","unstructured":"Carrasco de la Fuente M, Barrio Castellanos R, Alonso Blanco M, de la Calle Blasco H (2010) Long survival in Rabson\u2013Mendenhall syndrome. Diabetes Res Clin Pract 89:e17\u2013e18. doi: 10.1016\/j.diabres.2010.04.023","journal-title":"Diabetes Res Clin Pract"},{"key":"490_CR11","doi-asserted-by":"crossref","first-page":"828","DOI":"10.2337\/db11-0878","volume":"61","author":"M Liu","year":"2012","unstructured":"Liu M, Lara-Lemus R, Shu-ou S, Wright J, Haataja L, Barbetti F, Guo H, Larkin D, Arvan P (2012) Impaired cleavage of preproinsulin signal peptide linked to autosomal dominant diabetes. Diabetes 61:828\u2013837. doi: 10.2337\/db11-0878","journal-title":"Diabetes"},{"key":"490_CR12","first-page":"1195","volume":"74","author":"JM Elders","year":"1982","unstructured":"Elders JM, Schedewie HK, Olefsky J, Givens B, Char F et al (1982) Endocrine-metabolic relationships in patients with leprechaunism. J Natl Med Assoc 74:1195\u20131210","journal-title":"J Natl Med Assoc"},{"key":"490_CR13","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1515\/JPEM.2009.22.7.669","volume":"22","author":"S Unal","year":"2009","unstructured":"Unal S, Aycan Z, Halsall DJ, Kibar AE, Eker S et al (2009) Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. J Pediatr Endocrinol Metab 22:669\u2013674","journal-title":"J Pediatr Endocrinol Metab"},{"key":"490_CR14","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1007\/s00467-007-0600-5","volume":"22","author":"AM Harris","year":"2007","unstructured":"Harris AM, Hall B, Kriss VM, Fowlkes JL, Kiessling SG (2007) Rabson\u2013Mendenhall syndrome: medullary sponge kidney, a new component. Pediatr Nephrol 22:2141\u20132144","journal-title":"Pediatr Nephrol"},{"key":"490_CR15","first-page":"587","volume":"25","author":"Y Abe","year":"2012","unstructured":"Abe Y, Sato T, Takagi M, Watanabe T, Nagayama Y et al (2012) A case of Rabson\u2013Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. J Pediatr Endocrinol Metab 25:587\u2013590","journal-title":"J Pediatr Endocrinol Metab"},{"key":"490_CR16","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/2251-6581-12-7","volume":"12","author":"YH Chong","year":"2013","unstructured":"Chong YH, Taylor BJ, Wheeler BJ (2013) Renal manifestations of severe Rabson\u2013Mendenhall syndrome: a case report. J Diabetes Metab Disord 12:7. doi: 10.1186\/2251-6581-12-7","journal-title":"J Diabetes Metab Disord"},{"key":"490_CR17","first-page":"857136","volume":"2012","author":"YR Bhat","year":"2012","unstructured":"Bhat YR, Vinayaka G, Sreelakshmi K (2012) Antenatal Bartter syndrome: a review. Int J Pediatr 2012:857136. doi: 10.1155\/2012\/857136","journal-title":"Int J Pediatr"},{"key":"490_CR18","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng1096-152","volume":"14","author":"DB Simon","year":"1996","unstructured":"Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A et al (1996) Genetic heterogeneity of Bartter\u2019s syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14:152\u2013156","journal-title":"Nat Genet"},{"key":"490_CR19","doi-asserted-by":"crossref","unstructured":"Hovnik T, Bratanic N, Trebusak Podkrajsek K, Kovac J, Paro D, et al (2012) Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation. Eur J Pediatr published online 11 Dec 2012. doi: 10.1007\/s00431-012-1901-7","DOI":"10.1007\/s00431-012-1901-7"},{"key":"490_CR20","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s00592-010-0215-3","volume":"47","author":"R Vigneri","year":"2010","unstructured":"Vigneri R, Squatrito S, Sciacca L (2010) Insulin and its analogs: actions via insulin and IGF receptors. Acta Diabetol 47:271\u2013278","journal-title":"Acta Diabetol"},{"key":"490_CR21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00592-010-0227-z","volume":"48","author":"M Annunziata","year":"2011","unstructured":"Annunziata M, Granata R, Ghigo E (2011) The IGF system. Acta Diabetol 48:1\u20139","journal-title":"Acta Diabetol"},{"key":"490_CR22","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/j.1365-2265.2010.03810.x","volume":"73","author":"RK Semple","year":"2010","unstructured":"Semple RK, Williams R, Dunger DB (2010) What is the best management strategy for patients with severe insulin resistance ? Clin Endocrinol 73:286\u2013290. doi: 10.1111\/j.1365-2265.2010.03810.x","journal-title":"Clin Endocrinol"},{"key":"490_CR23","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1210\/jc.2003-031952","volume":"89","author":"E Cochran","year":"2004","unstructured":"Cochran E, Young JR, Sebring N, De Paoli A, Oral EA, Gorden P (2004) Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson\u2013Mendenhall syndrome. J Clin Endocrinol Metab 89:1548\u20131554","journal-title":"J Clin Endocrinol Metab"},{"key":"490_CR24","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.2337\/diabetes.53.6.1592","volume":"53","author":"K Hojlund","year":"2004","unstructured":"Hojlund K, Hansen T, Lajer M, Henriksen JE, Levin K et al (2004) A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes 53:1592\u20131598","journal-title":"Diabetes"},{"key":"490_CR25","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/j.1365-2265.2009.03525.x","volume":"71","author":"Z Huang","year":"2009","unstructured":"Huang Z, Li Y, Tang T, Xu W, Liao Z et al (2009) Hyperinsulinemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor gene. Clin Endocrinol 71:659\u2013665. doi: 10.1111\/j.1365-2265.2009.03525.x","journal-title":"Clin Endocrinol"}],"container-title":["Acta Diabetologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00592-013-0490-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00592-013-0490-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00592-013-0490-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,27]],"date-time":"2022-02-27T03:39:35Z","timestamp":1645933175000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00592-013-0490-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,4]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["490"],"URL":"https:\/\/doi.org\/10.1007\/s00592-013-0490-x","relation":{},"ISSN":["0940-5429","1432-5233"],"issn-type":[{"value":"0940-5429","type":"print"},{"value":"1432-5233","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,4]]}}}