Article
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Journal of inherited metabolic disease - 1 Nov 2021
Keller Mareike, Brennenstuhl Heiko, Kuseyri Hübschmann Oya, Manti Filippo, Julia Palacios Natalia Alexandra, Friedman Jennifer, Yıldız Yılmaz, Koht Jeanette Aimee, Wong Suet-Na, Zafeiriou Dimitrios I, López-Laso Eduardo, Pons Roser, Kulhánek Jan, Jeltsch Kathrin, Serrano-Lomelin Jesus, Garbade Sven F, Opladen Thomas, Goez Helly, Burlina Alberto, Cortès-Saladelafont Elisenda, Fernández Ramos Joaquín Alejandro, García-Cazorla Angeles, Hoffmann Georg F, Kiat Hong Stacey Tay, Honzík Tomáš, Kavecan Ivana, Kurian Manju A, Leuzzi Vincenzo, Lücke Thomas, Manzoni Francesca, Mastrangelo Mario, Mercimek-Andrews Saadet, Mir Pablo, Oppebøen Mari, Pearson Toni S, Sivri H Serap, Steel Dora, Stevanović Galina, Fung Cheuk-Wing
Abstract excerpt
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the...
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