{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:17:11Z","timestamp":1791901031368,"version":"4.3.4"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,1,16]],"date-time":"2006-01-16T00:00:00Z","timestamp":1137369600000},"content-version":"vor","delay-in-days":594,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:p>\n                    <jats:bold>\n                      A\n                      <jats:sc>bstract<\/jats:sc>\n                      :\n                    <\/jats:bold>\n                    Dopamine\u2010\u03b2\u2010hydroxylase (D\u03b2H) deficiency is a rare autosomal dominant disorder. Due to the absence of D\u03b2H, there is a blocked conversion of dopamine into norepinephrine. The biochemical hallmark of this syndrome consists of a complete absence of plasma norepinephrine and epinephrine levels in conjunction with an increased plasma dopamine level. Several mutations in the gene that encodes for D\u03b2H have been described. Up to now, worldwide, 12 patients have been reported. The most important clinical feature is a severe orthostatic hypotension. In addition, several other clinical features like blepharoptosis, hyperflexible joints, high palate, sluggish deep tendon reflexes, and a mild normocytic anemia have been described. The only effective treatment of D\u03b2H deficiency is L\u2010threo\u20103,4\u2010dihydroxyphenylserine (DOPS). DOPS is converted directly into norepinephrine. Treatment with DOPS results in a sustained relief of orthostatic symptoms.\n                  <\/jats:p>","DOI":"10.1196\/annals.1296.064","type":"journal-article","created":{"date-parts":[[2004,7,7]],"date-time":"2004-07-07T16:59:19Z","timestamp":1089219559000},"page":"520-523","source":"Crossref","is-referenced-by-count":38,"title":["Congenital Dopamine\u2010\u03b2\u2010Hydroxylase Deficiency in Humans"],"prefix":"10.1111","volume":"1018","author":[{"given":"H J L M","family":"Timmers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Deinum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J W M","family":"Lenders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,16]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198606053142307"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)90002-X"},{"key":"e_1_2_4_4_2","first-page":"617","article-title":"Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to the inability to synthesize norepinephrine from dopamine because of a deficiency of dopamine\u2010beta\u2010hydroxylase","volume":"278","author":"Mathias C.J.","year":"1990","journal-title":"Q. J. Med."},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.2.370"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10196"}],"container-title":["Annals of the New York Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1196%2Fannals.1296.064","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1196\/annals.1296.064","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T18:48:15Z","timestamp":1695667695000},"score":1,"resource":{"primary":{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/10.1196\/annals.1296.064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1196\/annals.1296.064"],"URL":"https:\/\/doi.org\/10.1196\/annals.1296.064","archive":["Portico"],"relation":{},"ISSN":["0077-8923","1749-6632"],"issn-type":[{"value":"0077-8923","type":"print"},{"value":"1749-6632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6]]}}}