Ontology highlight
ABSTRACT:
SUBMITTER: van Vliet K
PROVIDER: S-EPMC6894144 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
van Vliet Kimber K van Ginkel Willem G WG Jahja Rianne R Daly Anne A MacDonald Anita A De Laet Corinne C Vara Roshni R Rahman Yusof Y Cassiman David D Eyskens Francois F Timmer Corrie C Mumford Nicky N Bierau Jörgen J van Hasselt Peter M PM Gissen Paul P Goyens Philippe J PJ McKiernan Patrick J PJ Wilcox Gisela G Morris Andrew A M AAM Jameson Elisabeth A EA Huijbregts Stephan C J SCJ van Spronsen Francjan J FJ
Orphanet journal of rare diseases 20191204 1
<h4>Background</h4>Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.<h4>Results</h4>Thirty-one TT1 patients (19 ...[more]