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pubmed-article:21112803pubmed:abstractTextPsychomotor impairment has been described in hypertyrosinemia types II and III (HT III). Only recently cognitive deficits have also been reported in hypertyrosinemia type I (HT I). The pathogenic mechanisms responsible are unknown. Since implementation of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC, Nitisinone (Swedish Orphan International)) in the treatment of HT I, plasma tyrosine elevation is a common finding as known from the other hypertyrosinemias.lld:pubmed
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pubmed-article:21112803pubmed:copyrightInfoCopyright © 2010 Elsevier Inc. All rights reserved.lld:pubmed
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pubmed-article:21112803pubmed:articleTitleIncrease of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.lld:pubmed
pubmed-article:21112803pubmed:affiliationDepartment of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstrasse 5, Düsseldorf, Germany. Eva.Thimm@med.uni-duesseldorf.delld:pubmed
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