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More insight in clinical features of dopamine beta\u2010hydroxylase deficiency consisting mainly of eyelid ptosis, orthostatic hypotension, hypoglycaemia and exercise intolerance, explains the delay in diagnosis of this congenital disorder, although all symptoms some more concealed are present. An increasing experience by L\u2010DOPS, a resurrection for the patient, allows recommendations for early treatment. An explanation for the delay in diagnosis is provided together with the advice for treatment.<\/jats:p>","DOI":"10.1111\/apa.16312","type":"journal-article","created":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T17:47:22Z","timestamp":1645724842000},"page":"1134-1136","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The cause of eyelid ptosis, orthostatic hypotension and exercise intolerance"],"prefix":"10.1111","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5424-4404","authenticated-orcid":false,"given":"Leo","family":"Monnens","sequence":"first","affiliation":[{"name":"Department of Physiology Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12321"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2013.03.009"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1586\/erc.12.139"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-2610"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.14955"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2015-308337"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.2001.t01-1-00269.x"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)91318-3"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-017-2649-1"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/npp.2011.42"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10286-004-0221-z"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10286-018-0564-5"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jash.2016.07.009"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.118.10971"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/apa.16312","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/apa.16312","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/apa.16312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T15:53:48Z","timestamp":1692978828000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/apa.16312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,9]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1111\/apa.16312"],"URL":"https:\/\/doi.org\/10.1111\/apa.16312","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"type":"print","value":"0803-5253"},{"type":"electronic","value":"1651-2227"}],"subject":[],"published":{"date-parts":[[2022,3,9]]},"assertion":[{"value":"2021-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}