Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nature communications - 20 Sept 2021
Kuseyri Hübschmann Oya, Horvath Gabriella, Cortès-Saladelafont Elisenda, Yıldız Yılmaz, Mastrangelo Mario, Pons Roser, Friedman Jennifer, Mercimek-Andrews Saadet, Wong Suet-Na, Pearson Toni S, Zafeiriou Dimitrios I, Kulhánek Jan, Kurian Manju A, López-Laso Eduardo, Oppebøen Mari, Kılavuz Sebile, Wassenberg Tessa, Goez Helly, Scholl-Bürgi Sabine, Porta Francesco, Honzík Tomáš, Santer René, Burlina Alberto, Sivri H Serap, Leuzzi Vincenzo, Hoffmann Georg F, Jeltsch Kathrin, Hübschmann Daniel, Garbade Sven F, García-Cazorla Angeles, Opladen Thomas
Abstract excerpt
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on...
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