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Listar por autor "Kuseyri Hübschmann, Oya"
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Artículo
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry
Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Mir Rivera, Pablo; Cheuk Wing (Spinger, 2021-07-09)Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, ...
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Artículo
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, Oya; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Mir Rivera, Pablo; Opladen, Thomas (Nature Research, 2021-09-20)Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders ...