{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:04:56Z","timestamp":1790485496711,"version":"4.1.0"},"publisher-location":"Berlin, Heidelberg","reference-count":25,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662482261","type":"print"},{"value":"9783662482278","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015]]},"DOI":"10.1007\/8904_2015_450","type":"book-chapter","created":{"date-parts":[[2015,5,25]],"date-time":"2015-05-25T04:48:44Z","timestamp":1432529324000},"page":"109-113","source":"Crossref","is-referenced-by-count":13,"title":["Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency"],"prefix":"10.1007","author":[{"given":"Matthias","family":"Zielonka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawal","family":"Makhseed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Bettendorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg Friedrich","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Opladen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,5,26]]},"reference":[{"key":"450_CR1","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.ymgme.2006.03.010","volume":"89","author":"NG Abeling","year":"2006","unstructured":"Abeling NG, Duran M, Bakker HD et al (2006) Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 89:116\u2013120","journal-title":"Mol Genet Metab"},{"key":"450_CR2","doi-asserted-by":"publisher","first-page":"4279","DOI":"10.1210\/jc.2013-2740","volume":"98","author":"JB Arnoux","year":"2013","unstructured":"Arnoux JB, Damaj L, Napuri S et al (2013) Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. J Clin Endocrinol Metab 98:4279\u20134284","journal-title":"J Clin Endocrinol Metab"},{"key":"450_CR3","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1006\/mgme.2001.3213","volume":"74","author":"N Blau","year":"2001","unstructured":"Blau N, Bonafe L, Th\u00f6ny B (2001) Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 74:172\u2013185","journal-title":"Mol Genet Metab"},{"key":"450_CR4","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1086\/321970","volume":"69","author":"L Bonafe","year":"2001","unstructured":"Bonafe L, Th\u00f6ny B, Penzien JM et al (2001) Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69:169\u2013177","journal-title":"Am J Hum Genet"},{"key":"450_CR5","doi-asserted-by":"publisher","first-page":"e13861","DOI":"10.1371\/journal.pone.0013861","volume":"5","author":"I Cantuti-Castelvetri","year":"2010","unstructured":"Cantuti-Castelvetri I, Hernandez LF, Keller-McGandy CE et al (2010) Levodopa-induced dyskinesia is associated with increased thyrotropin releasing hormone in the dorsal striatum of hemi-parkinsonian rats. PLoS One 5:e13861","journal-title":"PLoS One"},{"key":"450_CR6","doi-asserted-by":"publisher","first-page":"1270","DOI":"10.1210\/endo.143.4.8750","volume":"143","author":"G D\u00edaz-Torga","year":"2002","unstructured":"D\u00edaz-Torga G, Feierstein C, Libertun C et al (2002) Disruption of the D2 dopamine receptor alters GH and IGF-1 secretion and causes dwarfism in male mice. Endocrinology 143:1270\u20131279","journal-title":"Endocrinology"},{"key":"450_CR7","doi-asserted-by":"publisher","first-page":"e29","DOI":"10.1212\/WNL.0b013e3182452849","volume":"78","author":"P Dill","year":"2012","unstructured":"Dill P, Wagner M, Sommerville A et al (2012) Child neurology: paroxysmal stiffening, upward gaze and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology 78:e29\u2013e32","journal-title":"Neurology"},{"key":"450_CR8","doi-asserted-by":"publisher","first-page":"28303","DOI":"10.1074\/jbc.M303986200","volume":"278","author":"L Elzaouk","year":"2003","unstructured":"Elzaouk L, Leimbacher W, Turri M et al (2003) Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts\n\u2212\/\u2212 mice rescued by feeding neurotransmitter precursors and H4-biopterin. J Biol Chem 278:28303\u201328311","journal-title":"J Biol Chem"},{"key":"450_CR9","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1002\/ana.22685","volume":"71","author":"J Friedman","year":"2011","unstructured":"Friedman J, Roze E, Abdenur JE et al (2011) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71:520\u2013530","journal-title":"Ann Neurol"},{"key":"450_CR10","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1023\/A:1005587719505","volume":"22","author":"K Hyland","year":"1999","unstructured":"Hyland K (1999) Neurochemistry and defects of biogenic amine neurotransmitter metabolism. J Inherit Metab Dis 22:353\u2013366","journal-title":"J Inherit Metab Dis"},{"key":"450_CR11","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/j.nbd.2012.12.005","volume":"52","author":"NC Lee","year":"2013","unstructured":"Lee NC, Shieh YD, Chien YH et al (2013) Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. Neurobiol Dis 52:177\u2013190","journal-title":"Neurobiol Dis"},{"key":"450_CR12","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1677\/joe.0.1150419","volume":"115","author":"BM Lewis","year":"1987","unstructured":"Lewis BM, Dieguez C, Lewis MD, Scanlon MF (1987) Dopamine stimulates release of thyrotropin-releasing hormone from perfused intact rat hypothalamus via hypothalamic D2-receptors. J Endocrinol 115:419\u2013424","journal-title":"J Endocrinol"},{"key":"450_CR13","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1007\/s10545-009-1076-1","volume":"32","author":"C Manegold","year":"2009","unstructured":"Manegold C, Hoffmann GF, Degen I et al (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 32:371\u2013380","journal-title":"J Inherit Metab Dis"},{"key":"450_CR14","doi-asserted-by":"publisher","first-page":"2291","DOI":"10.1093\/brain\/awh603","volume":"128","author":"BGR Neville","year":"2005","unstructured":"Neville BGR, Parascandalo R, Farrugia R, Felica A (2005) Sepiapterin reductase deficiency: a congenital dopa responsive motor and cognitive disorder. Brain 128:2291\u20132296","journal-title":"Brain"},{"key":"450_CR15","doi-asserted-by":"publisher","first-page":"5834","DOI":"10.1523\/JNEUROSCI.5673-12.2013","volume":"33","author":"D Noa\u00edn","year":"2013","unstructured":"Noa\u00edn D, P\u00e9rez-Mill\u00e1n M, Bello EP et al (2013) Central dopamine D2 receptors regulate growth-hormone-dependent body growth and pheromone signaling to conspecific males. J Neurosci 33:5834\u20135842","journal-title":"J Neurosci"},{"key":"450_CR16","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mds.23329","volume":"26","author":"T Opladen","year":"2011","unstructured":"Opladen T, Hoffmann G, H\u00f6rster F et al (2011) Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord 26:157\u2013161","journal-title":"Mov Disord"},{"key":"450_CR17","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1007\/s10545-012-9506-x","volume":"35","author":"T Opladen","year":"2012","unstructured":"Opladen T, Hoffmann GF, Blau N (2012) An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 35:963\u2013973","journal-title":"J Inherit Metab Dis"},{"key":"450_CR18","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s11910-004-0029-1","volume":"4","author":"PL Pearl","year":"2004","unstructured":"Pearl PL, Wallis DD, Gibson M (2004) Pediatric neurotransmitter diseases. Curr Neurol Neurosci Rep 4:147\u2013152","journal-title":"Curr Neurol Neurosci Rep"},{"key":"450_CR19","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1212\/WNL.0b013e3181b38983","volume":"73","author":"F Porta","year":"2009","unstructured":"Porta F, Mussa A, Concolino D et al (2009) Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. Neurology 73:633\u2013637","journal-title":"Neurology"},{"key":"450_CR20","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1016\/j.ymgme.2012.01.013","volume":"105","author":"F Porta","year":"2012","unstructured":"Porta F, Mussa A, Concolino D et al (2012) Dopamine agonists in dihydropteridine reductase deficiency. Mol Genet Metab 105:582\u2013584","journal-title":"Mol Genet Metab"},{"key":"450_CR21","first-page":"217","volume":"74","author":"MH Samuels","year":"1992","unstructured":"Samuels MH, Henry P, Ridgway EC (1992) Effects of dopamine and somatostatin on pulsatile pituitary glycoprotein secretion. J Clin Endocrinol Metab 74:217\u2013222","journal-title":"J Clin Endocrinol Metab"},{"key":"450_CR22","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/j.braindev.2010.10.015","volume":"33","author":"M Segawa","year":"2011","unstructured":"Segawa M (2011) Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 33:195\u2013201","journal-title":"Brain Dev"},{"key":"450_CR23","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1023\/A:1005591820414","volume":"22","author":"R Surtees","year":"1999","unstructured":"Surtees R (1999) Inborn errors of neurotransmitter receptors. J Inherit Metab Dis 22:374\u2013380","journal-title":"J Inherit Metab Dis"},{"key":"450_CR24","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1002\/humu.20366","volume":"27","author":"B Th\u00f6ny","year":"2006","unstructured":"Th\u00f6ny B, Blau N (2006) Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 27:870\u2013878","journal-title":"Hum Mutat"},{"key":"450_CR25","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1086\/501372","volume":"78","author":"S Yang","year":"2006","unstructured":"Yang S, Lee YJ, Kim JM et al (2006) A murine model for human sepiapterin-reductase deficiency. Am J Hum Genet 78:575\u2013587","journal-title":"Am J Hum Genet"}],"container-title":["JIMD Reports","JIMD Reports, Volume 24"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2015_450","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T21:47:51Z","timestamp":1559166471000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2015_450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"ISBN":["9783662482261","9783662482278"],"references-count":25,"URL":"https:\/\/doi.org\/10.1007\/8904_2015_450","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}