{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:07:56Z","timestamp":1761102476645,"version":"3.37.3"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2021,12]]},"DOI":"10.1007\/s11011-021-00838-w","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T10:23:20Z","timestamp":1632306200000},"page":"2255-2262","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Approaches for diagnosis and treatment in neurotransmitter disorders of childhood"],"prefix":"10.1007","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6275-0884","authenticated-orcid":false,"given":"Cengiz","family":"Haval\u0131","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-2573","authenticated-orcid":false,"given":"Sevil","family":"Dorum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0813-7189","authenticated-orcid":false,"given":"Arzu","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2289-8619","authenticated-orcid":false,"given":"\u00d6zlem","family":"G\u00f6r\u00fckmez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,9,22]]},"reference":[{"issue":"Suppl 6","key":"838_CR1","doi-asserted-by":"publisher","first-page":"S18","DOI":"10.1002\/ana.10628","volume":"54","author":"B Assmann","year":"2003","unstructured":"Assmann B, Surtees R, Hoffmann GF (2003) Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol 54(Suppl 6):S18\u2013S24","journal-title":"Ann Neurol"},{"issue":"1","key":"838_CR2","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1055\/s-0038-1673630","volume":"50","author":"H Brennenstuhl","year":"2019","unstructured":"Brennenstuhl H, Jung-Klawitter S, Assmann B, Opladen T (2019) Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment. Neuropediatrics 50(1):2\u201314","journal-title":"Neuropediatrics"},{"issue":"3","key":"838_CR3","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1002\/jimd.12208","volume":"43","author":"H Brennenstuhl","year":"2020","unstructured":"Brennenstuhl H et al (2020) High throughput newborn screening for aromatic \u029f-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. J Inherit Metab Dis 43(3):602\u2013610","journal-title":"J Inherit Metab Dis"},{"issue":"Suppl 6","key":"838_CR4","doi-asserted-by":"publisher","first-page":"S13","DOI":"10.1002\/ana.10627","volume":"54","author":"K Hyland","year":"2003","unstructured":"Hyland K (2003) The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 54(Suppl 6):S13\u2013S17","journal-title":"Ann Neurol"},{"issue":"4","key":"838_CR5","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1002\/ana.22685","volume":"71","author":"J Friedman","year":"2012","unstructured":"Friedman J et al (2012) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71(4):520\u2013530","journal-title":"Ann Neurol"},{"issue":"8","key":"838_CR6","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1016\/S1474-4422(11)70141-7","volume":"10","author":"MA Kurian","year":"2011","unstructured":"Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT (2011) The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 10(8):721\u2013733","journal-title":"Lancet Neurol"},{"issue":"4","key":"838_CR7","doi-asserted-by":"publisher","first-page":"1070","DOI":"10.1002\/jimd.12360","volume":"44","author":"O Kuseyri H\u00fcbschmann","year":"2021","unstructured":"Kuseyri H\u00fcbschmann O et al (2021) Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients. J Inherit Metab Dis 44(4):1070\u20131082","journal-title":"J Inherit Metab Dis"},{"key":"838_CR8","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, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, H\u00f6rster F (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"},{"issue":"6","key":"838_CR9","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(6):963\u2013973","journal-title":"J Inherit Metab Dis"},{"key":"838_CR10","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1186\/s13023-020-01379-8","volume":"15","author":"T Opladen","year":"2020","unstructured":"Opladen T, L\u00f3pez-Laso E, Cort\u00e8s-Saladelafont E et al (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis 15:126. https:\/\/doi.org\/10.1186\/s13023-020-01379-8","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"838_CR11","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1177\/0883073807302619","volume":"22","author":"PL Pearl","year":"2007","unstructured":"Pearl PL, Taylor JL, Trzcinski S, Sokohl A (2007) The pediatric neurotransmitter disorders. J Child Neurol 22(5):606\u2013616","journal-title":"J Child Neurol"},{"issue":"5","key":"838_CR12","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1002\/jimd.12247","volume":"43","author":"TS Pearson","year":"2020","unstructured":"Pearson TS et al (2020) AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis 43(5):1121\u20131130","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"838_CR13","doi-asserted-by":"publisher","first-page":"4251","DOI":"10.1038\/s41467-021-24524-8","volume":"12","author":"TS Pearson","year":"2021","unstructured":"Pearson TS et al (2021) Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons. Nat Commun 12(1):4251","journal-title":"Nat Commun"},{"issue":"4","key":"838_CR14","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/j.pediatrneurol.2015.04.016","volume":"53","author":"LH Rodan","year":"2015","unstructured":"Rodan LH et al (2015) Clinical use of CSF neurotransmitters. Pediatr Neurol 53(4):277\u2013286","journal-title":"Pediatr Neurol"},{"issue":"3","key":"838_CR15","doi-asserted-by":"crossref","first-page":"332","DOI":"10.4103\/aian.AIAN_424_19","volume":"23","author":"AG Saini","year":"2020","unstructured":"Saini AG, Sharma S (2020) Movement disorders in inherited metabolic diseases in children. Ann Indian Acad Neurol 23(3):332\u2013337","journal-title":"Ann Indian Acad Neurol"},{"key":"838_CR16","unstructured":"Swoboda KJ, Walker MA (2018) Neurotransmitter-related disorders. Swaiman's pediatric neurology. Swaiman K.F.: 886\u2013896."},{"issue":"1","key":"838_CR17","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/s13023-016-0522-z","volume":"12","author":"T Wassenberg","year":"2017","unstructured":"Wassenberg T et al (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis 12(1):12","journal-title":"Orphanet J Rare Dis"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-021-00838-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11011-021-00838-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-021-00838-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T05:45:24Z","timestamp":1699508724000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11011-021-00838-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,22]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["838"],"URL":"https:\/\/doi.org\/10.1007\/s11011-021-00838-w","relation":{},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"type":"print","value":"0885-7490"},{"type":"electronic","value":"1573-7365"}],"subject":[],"published":{"date-parts":[[2021,9,22]]},"assertion":[{"value":"15 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 September 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This article does not contain any studies with human participants or animals performed by any of the authors.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"No potential conflict of interest, this research was no partially or fully sponsored by any financial assistance.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}