{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:36:59Z","timestamp":1790012219673,"version":"4.0.1"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T00:00:00Z","timestamp":1566345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1007\/s40618-019-01099-2","type":"journal-article","created":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T17:02:32Z","timestamp":1566406952000},"page":"185-196","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3786-0739","authenticated-orcid":false,"given":"R.","family":"Polat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ustyol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Tuncez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Guran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,8,21]]},"reference":[{"key":"1099_CR1","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1016\/S0140-6736(78)91268-0","volume":"311","author":"J Allgrove","year":"1978","unstructured":"Allgrove J, Clayden GS, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. The Lancet 311:1284\u20131286. \nhttps:\/\/doi.org\/10.1016\/S0140-6736(78)91268-0","journal-title":"The Lancet"},{"key":"1099_CR2","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1093\/hmg\/10.3.283","volume":"10","author":"K Handschug","year":"2001","unstructured":"Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A (2001) Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283\u2013290. \nhttps:\/\/doi.org\/10.1093\/hmg\/10.3.283","journal-title":"Hum Mol Genet"},{"key":"1099_CR3","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1038\/81642","volume":"26","author":"A Tullio-Pelet","year":"2000","unstructured":"Tullio-Pelet A, Salomon R, Hadj-Rabia S et al (2000) Mutant\u00a0WD-repeat\u00a0protein\u00a0in\u00a0triple-A syndrome. Nat Genet 26:332\u2013335. \nhttps:\/\/doi.org\/10.1038\/81642","journal-title":"Nat Genet"},{"key":"1099_CR4","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1083\/jcb.200206106","volume":"158","author":"JM Cronshaw","year":"2002","unstructured":"Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ (2002) Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 158:915\u2013927. \nhttps:\/\/doi.org\/10.1083\/jcb.200206106","journal-title":"J Cell Biol"},{"key":"1099_CR5","doi-asserted-by":"publisher","first-page":"3209","DOI":"10.1210\/en.2013-1241","volume":"154","author":"R Prasad","year":"2013","unstructured":"Prasad R, Metherell LA, Clark AJ, Storr HL (2013) Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology 154:3209\u20133218. \nhttps:\/\/doi.org\/10.1210\/en.2013-1241","journal-title":"Endocrinology"},{"key":"1099_CR6","doi-asserted-by":"publisher","first-page":"e0124582","DOI":"10.1371\/journal.pone.0124582","volume":"10","author":"R J\u00fchlen","year":"2015","unstructured":"J\u00fchlen R, Idkowiak J, Taylor AE et al (2015) Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis. PLoS One 10:e0124582. \nhttps:\/\/doi.org\/10.1371\/journal.pone.0124582","journal-title":"PLoS One"},{"key":"1099_CR7","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/j.beem.2018.05.010","volume":"32","author":"T Kirkgoz","year":"2018","unstructured":"Kirkgoz T, Guran T (2018) Primary adrenal insufficiency in children: diagnosis and management. Best Pract Res Clin Endocrinol Metab 32:397\u2013424. \nhttps:\/\/doi.org\/10.1016\/j.beem.2018.05.010","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"1099_CR8","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.arcmed.2016.04.004","volume":"47","author":"F Kallabi","year":"2016","unstructured":"Kallabi F, Belghuith N, Aloulou H et al (2016) Clinical and genetic characterization of 26 Tunisian patients with Allgrove syndrome. Arch Med Res 47:105\u2013110. \nhttps:\/\/doi.org\/10.1016\/j.arcmed.2016.04.004","journal-title":"Arch Med Res"},{"key":"1099_CR9","doi-asserted-by":"publisher","first-page":"8615","DOI":"10.3748\/wjg.v22.i38.8615","volume":"22","author":"A Tebaibia","year":"2016","unstructured":"Tebaibia A, Boudjella MA, Boutarene D, Benmediouni F, Brahimi H, Oumnia N (2016) Incidence, clinical features and para-clinical findings of achalasia in Algeria: experience of 25 years. World J Gastroenterol 22:8615\u20138623. \nhttps:\/\/doi.org\/10.3748\/wjg.v22.i38.8615","journal-title":"World J Gastroenterol"},{"key":"1099_CR10","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1007\/s00431-010-1222-7","volume":"169","author":"T Milenkovic","year":"2010","unstructured":"Milenkovic T, Zdravkovic D, Savic N et al (2010) Triple A syndrome: 32\u00a0years experience of a single centre (1977\u20132008). Eur J Pediatr 169:1323\u20131328. \nhttps:\/\/doi.org\/10.1007\/s00431-010-1222-7","journal-title":"Eur J Pediatr"},{"key":"1099_CR11","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1007\/BF01972967","volume":"154","author":"M Gazarian","year":"1995","unstructured":"Gazarian M, Cowell CT, Bonney M, Grigor WG (1995) The \u201c4A\u201d syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 154:18\u201323. \nhttps:\/\/doi.org\/10.1007\/BF01972967","journal-title":"Eur J Pediatr"},{"key":"1099_CR12","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1016\/j.pediatrneurol.2013.07.015","volume":"49","author":"T Mathew","year":"2013","unstructured":"Mathew T, Mehta A, Sarma GR (2013) The fourth \u201cA\u201d of the \u201c4A\u201d syndrome. Pediatr Neurol 49:507\u2013508. \nhttps:\/\/doi.org\/10.1016\/j.pediatrneurol.2013.07.015","journal-title":"Pediatr Neurol"},{"key":"1099_CR13","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1210\/jc.2015-3250","volume":"101","author":"T Guran","year":"2016","unstructured":"Guran T, Buonocore F, Saka N et al (2016) Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort. J Clin Endocrinol Metab 101:284\u2013292. \nhttps:\/\/doi.org\/10.1210\/jc.2015-3250","journal-title":"J Clin Endocrinol Metab"},{"key":"1099_CR14","doi-asserted-by":"publisher","first-page":"9","DOI":"10.4274\/jcrpe.2017.S002","volume":"9","author":"T G\u00fcran","year":"2017","unstructured":"G\u00fcran T (2017) Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. J Clin Res Pediatr Endocrinol 9:9\u201322. \nhttps:\/\/doi.org\/10.4274\/jcrpe.2017.S002","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"1099_CR15","first-page":"471","volume-title":"Pediatric Endocrinology","author":"LM Walter","year":"2014","unstructured":"Walter LM, Christa EF (2014) Adrenal cortex and its disorders. In: Sperling Mark A (ed) Pediatric Endocrinology, 4th edn. Elsevier Saunders, Philadelphia, pp 471\u2013532","edition":"4"},{"key":"1099_CR16","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1530\/EC-17-0255","volume":"6","author":"H Patt","year":"2017","unstructured":"Patt H, Koehler K, Lodha S et al (2017) Phenotype\u2013genotype spectrum of AAA syndrome from Western India and systematic review of literature. Endocr Connect 6:901\u2013913. \nhttps:\/\/doi.org\/10.1530\/EC-17-0255","journal-title":"Endocr Connect"},{"key":"1099_CR17","doi-asserted-by":"publisher","first-page":"2086","DOI":"10.1210\/me.2009-0056","volume":"23","author":"HL Storr","year":"2009","unstructured":"Storr HL, Kind B, Parfitt DA et al (2009) Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol 23:2086\u20132094. \nhttps:\/\/doi.org\/10.1210\/me.2009-0056","journal-title":"Mol Endocrinol"},{"key":"1099_CR18","doi-asserted-by":"publisher","first-page":"2298","DOI":"10.1073\/pnas.0505598103","volume":"103","author":"M Hirano","year":"2006","unstructured":"Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (2006) ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci 103:2298\u20132303. \nhttps:\/\/doi.org\/10.1073\/pnas.0505598103","journal-title":"Proc Natl Acad Sci"},{"key":"1099_CR19","doi-asserted-by":"publisher","first-page":"2470","DOI":"10.1091\/mbc.e16-03-0158","volume":"28","author":"S Carvalhal","year":"2017","unstructured":"Carvalhal S, Stevense M, Koehler K et al (2017) ALADIN is required for the production of fertile mouse oocytes. Mol Biol Cell 28:2470\u20132478. \nhttps:\/\/doi.org\/10.1091\/mbc.e16-03-0158","journal-title":"Mol Biol Cell"},{"key":"1099_CR20","doi-asserted-by":"publisher","first-page":"3424","DOI":"10.1091\/mbc.E15-02-0113","volume":"26","author":"S Carvalhal","year":"2015","unstructured":"Carvalhal S, Ribeiro SA, Arocena M et al (2015) The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation. Mol Biol Cell 26:3424\u20133438. \nhttps:\/\/doi.org\/10.1091\/mbc.E15-02-0113","journal-title":"Mol Biol Cell"},{"key":"1099_CR21","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1530\/EJE-17-0642","volume":"178","author":"F Roucher-Boulez","year":"2018","unstructured":"Roucher-Boulez F, de la Perriere AB, Jacquez A et al (2018) Triple A syndrome: a wide spectrum of adrenal dysfunction. Eur J Endocrinol 178:199\u2013207. \nhttps:\/\/doi.org\/10.1530\/EJE-17-0642","journal-title":"Eur J Endocrinol"},{"key":"1099_CR22","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/ajmg.1320260319","volume":"26","author":"E Ehrich","year":"1987","unstructured":"Ehrich E, Aranoff G, Johnson WG (1987) Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. Am J Med Genet 26:637\u2013644. \nhttps:\/\/doi.org\/10.1002\/ajmg.1320260319","journal-title":"Am J Med Genet"},{"key":"1099_CR23","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1210\/jcem-50-2-268","volume":"50","author":"R Lanes","year":"1980","unstructured":"Lanes R, Plotnick LP, Bynum TE et al (1980) Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. J Clin Endocrinol Metab 50:268\u2013270. \nhttps:\/\/doi.org\/10.1210\/jcem-50-2-268","journal-title":"J Clin Endocrinol Metab"},{"key":"1099_CR24","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/S0161-6420(98)94018-0","volume":"105","author":"PB Mullaney","year":"1998","unstructured":"Mullaney PB, Weatherhead R, Millar L et al (1998) Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration: keratoconjunctivitis sicca secondary to lacrimal gland degeneration may parallel degenerative changes in esophageal and adrenocortical function. Ophthalmology 105:643\u2013650. \nhttps:\/\/doi.org\/10.1016\/S0161-6420(98)94018-0","journal-title":"Ophthalmology"},{"key":"1099_CR25","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1097\/00019605-200107000-00016","volume":"10","author":"E Tsilou","year":"2001","unstructured":"Tsilou E, Stratakis CA, Rubin BI, Hay BN, Patronas N, Kaiser-Kupfer MI (2001) Ophthalmic manifestations of Allgrove syndrome: report of a case. Clin Dysmorphol 10:231\u2013233. \nhttps:\/\/doi.org\/10.1097\/00019605-200107000-00016","journal-title":"Clin Dysmorphol"},{"key":"1099_CR26","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/1471-2415-4-7","volume":"4","author":"BP Brooks","year":"2004","unstructured":"Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA (2004) Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC ophthalmol 4:7. \nhttps:\/\/doi.org\/10.1186\/1471-2415-4-7","journal-title":"BMC ophthalmol"},{"key":"1099_CR27","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1001\/archopht.1971.01000010497002","volume":"86","author":"S Merin","year":"1971","unstructured":"Merin S, Crawford JS (1971) Hypoglycemia and infantile cataract. Arch Ophthalmol 86:495\u2013498. \nhttps:\/\/doi.org\/10.1001\/archopht.1971.01000010497002","journal-title":"Arch Ophthalmol"},{"key":"1099_CR28","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/S0039-6257(02)00462-9","volume":"48","author":"L Amaya","year":"2003","unstructured":"Amaya L, Taylor D, Russell-Eggitt I, Nischal KK, Lengyel D (2003) The morphology and natural history of childhood cataracts. Surv Ophthalmol 48:125\u2013144. \nhttps:\/\/doi.org\/10.1016\/S0039-6257(02)00462-9","journal-title":"Surv Ophthalmol"},{"key":"1099_CR29","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1007\/s00383-012-3214-3","volume":"28","author":"C Hallal","year":"2012","unstructured":"Hallal C, Kieling CO, Nunes DL et al (2012) Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience. Pediatr Surg Int 28:1211\u20131217. \nhttps:\/\/doi.org\/10.1007\/s00383-012-3214-3","journal-title":"Pediatr Surg Int"},{"key":"1099_CR30","doi-asserted-by":"publisher","first-page":"703","DOI":"10.12659\/ajcr.899546","volume":"17","author":"B Brown","year":"2016","unstructured":"Brown B, Agdere L, Muntean C, David K (2016) Alacrima as a harbinger of adrenal insufficiency in a child with Allgrove (AAA) syndrome. Am J Case Rep 17:703\u2013706. \nhttps:\/\/doi.org\/10.12659\/ajcr.899546","journal-title":"Am J Case Rep"},{"key":"1099_CR31","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1177\/000992289603500208","volume":"35","author":"M Phillip","year":"1996","unstructured":"Phillip M, Hershkovitz E, Schulman H (1996) Adrenal insufficiency after achalasia in the triple-A syndrome. Clin Pediatr (Phila 35:99\u2013100. \nhttps:\/\/doi.org\/10.1177\/000992289603500208","journal-title":"Clin Pediatr (Phila"},{"key":"1099_CR32","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/s00415-011-6115-9","volume":"259","author":"AE Vallet","year":"2012","unstructured":"Vallet AE, Verschueren A, Petiot P et al (2012) Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol 259:39\u201346. \nhttps:\/\/doi.org\/10.1007\/s00415-011-6115-9","journal-title":"J Neurol"},{"issue":"297","key":"1099_CR33","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.jns.2010.07.006","volume":"15","author":"K Nakamura","year":"2010","unstructured":"Nakamura K, Yoshida K, Yoshinaga T et al (2010) Adult or late-onset triple A syndrome: case report and literature review. J Neurol Sci 15(297):85\u201388. \nhttps:\/\/doi.org\/10.1016\/j.jns.2010.07.006","journal-title":"J Neurol Sci"},{"key":"1099_CR34","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1136\/adc.68.6.779","volume":"68","author":"DB Grant","year":"1993","unstructured":"Grant DB, Barnes ND, Dumic M et al (1993) Neurological and adrenal dysfunction in the adrenal insufficiency\/alacrima\/achalasia (3A) syndrome. Arch Dis Child 68:779\u2013782. \nhttps:\/\/doi.org\/10.1136\/adc.68.6.779","journal-title":"Arch Dis Child"},{"key":"1099_CR35","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1007\/s00109-010-0661-y","volume":"88","author":"B Kind","year":"2010","unstructured":"Kind B, Koehler K, Krumbholz M, Landgraf D, Huebner A (2010) Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J Mol Med (Berl) 88:1233\u20131242. \nhttps:\/\/doi.org\/10.1007\/s00109-010-0661-y","journal-title":"J Mol Med (Berl)"},{"key":"1099_CR36","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1159\/000465520","volume":"88","author":"MCBV Fragoso","year":"2017","unstructured":"Fragoso MCBV, Albuquerque EVA, Cardoso ALA et al (2017) Triple a syndrome: preliminary response to the antioxidant N-acetylcysteine treatment in a child. Horm Res Paediatr 88:167\u2013171. \nhttps:\/\/doi.org\/10.1159\/000465520","journal-title":"Horm Res Paediatr"},{"issue":"8","key":"1099_CR37","first-page":"318","volume":"31","author":"V Vucicevic-Boras","year":"2003","unstructured":"Vucicevic-Boras V, Juras D, Gruden-Pokupec JS, Vidovic A (2003) Oral manifestations of triple A syndrome. Eur J Med Res. 31(8):318\u2013320","journal-title":"Eur J Med Res."},{"key":"#cr-split#-1099_CR38.1","unstructured":"Razavi Z, Taghdiri MM, Eghbalian F, Bazzazi N (2010) Premature loss of permanent teeth in Allgrove"},{"key":"#cr-split#-1099_CR38.2","unstructured":"(4A) syndrome in two related families. Iran J Pediatr 20:101-106.  https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3446014\/  . Accessed 2010"},{"key":"1099_CR39","unstructured":"Tadini G, Besagni F, Callea M et al (2015) Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia. Eur J Paediatr Dent\u00a016:324\u2013326. \nhttp:\/\/admin.ejpd.eu\/download\/EJPD_2015_4_13.pdf\n\n. Accessed 2015"},{"key":"1099_CR40","doi-asserted-by":"publisher","first-page":"456","DOI":"10.3345\/kjp.2016.59.11.456","volume":"59","author":"M Vahedi","year":"2016","unstructured":"Vahedi M, Fathi S, Allahbakhshi H (2016) Edentulous child with Allgrove syndrome: a rare case report. Korean J Pediatr. 59:456\u2013459. \nhttps:\/\/doi.org\/10.3345\/kjp.2016.59.11.456","journal-title":"Korean J Pediatr."},{"key":"1099_CR41","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1007\/PL00008361","volume":"159","author":"M Dumi\u0107","year":"2000","unstructured":"Dumi\u0107 M, Mravak-Stipeti\u0107 M et al (2000) Xerostomia in patients with triple A syndrome\u2013a newly recognised finding. Eur J Pediatr 159:885\u2013888. \nhttps:\/\/doi.org\/10.1007\/PL00008361","journal-title":"Eur J Pediatr"},{"key":"1099_CR42","doi-asserted-by":"publisher","first-page":"498","DOI":"10.19070\/2377-8075-1700098","volume":"4","author":"BD Melek","year":"2017","unstructured":"Melek BD, Yacine R, Mehdi D, Badiaa J (2017) Dental involvement in a child with triple A syndrome. Int J Dentistry Oral Sci. 4:498\u2013502. \nhttps:\/\/doi.org\/10.19070\/2377-8075-1700098","journal-title":"Int J Dentistry Oral Sci."},{"key":"1099_CR43","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1159\/000075190","volume":"61","author":"B Yuksel","year":"2004","unstructured":"Yuksel B, Braun R, Topaloglu AK, Mungan NO, Ozer G, Huebner A (2004) Three children with Triple A syndrome due to a mutation (R478X) in the AAAS gene. Horm Res 61:3\u20136. \nhttps:\/\/doi.org\/10.1159\/000075190","journal-title":"Horm Res"},{"key":"1099_CR44","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1002\/mgg3.492","volume":"6","author":"E Leveille","year":"2018","unstructured":"Leveille E, Gonorazky HD, Rioux MF et al (2018) Triple A syndrome presenting as complicated hereditary spastic paraplegia. Mol Genet Genomic Med 6:1134\u20131139. \nhttps:\/\/doi.org\/10.1002\/mgg3.492","journal-title":"Mol Genet Genomic Med"},{"key":"1099_CR45","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1136\/jmedgenet-2016-104108","volume":"54","author":"K Koehler","year":"2017","unstructured":"Koehler K, Milev MP, Prematilake K et al (2017) A novel\u00a0TRAPPC11\u00a0mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis,\u00a0achalasia\u00a0and\u00a0alacrima. J Med Genet 54:176\u2013185. \nhttps:\/\/doi.org\/10.1136\/jmedgenet-2016-104108","journal-title":"J Med Genet"},{"key":"1099_CR46","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1016\/j.ajhg.2013.08.002","volume":"93","author":"K Koehler","year":"2013","unstructured":"Koehler K, Malik M, Mahmood S et al (2013) Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet 93:727\u2013734","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-019-01099-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40618-019-01099-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-019-01099-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,19]],"date-time":"2020-08-19T23:22:47Z","timestamp":1597879367000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40618-019-01099-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,21]]},"references-count":47,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["1099"],"URL":"https:\/\/doi.org\/10.1007\/s40618-019-01099-2","relation":{},"ISSN":["1720-8386"],"issn-type":[{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,21]]},"assertion":[{"value":"23 April 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All authors have indicated they have no potential conflicts of interest to disclose. All authors declare that they have no financial relationships relevant to this article to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study has been approved by the appropriate institutional and\/or national research ethics committee and has been performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human research"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}