Evidence for Treatable Inborn Errors of Metabolism in a Cohort of 187 Greek Patients with Autism Spectrum Disorder (ASD)

Autor: Panagiotis Kardaras, H. Frysira, Zoë D. Théodoridou, Eleni Bonti, Cornelis Jakobs, Ron A. Wevers, A.J. Tsalkidis, D. Asprangathou, Martha Spilioti, A. Haidopoulou, Despoina Tramma, E. Michailidi, K.M. Gibson, S. Metaxas, Athanasios Evangeliou

Publikováno v: Frontiers in Human Neuroscience, Vol 7 (2013)
Frontiers in Human Neuroscience
Frontiers in Human Neuroscience, 7. Frontiers Media S.A.
Spilioti, M, Evangeliou, A E, Tramma, D, Theodoridou, Z, Metaxas, S, Michailidi, E, Bonti, E, Frysira, H, Haidopoulou, A, Asprangathou, D, Tsalkidis, A J, Kardaras, P, Wevers, R A, Jakobs, C A J M & Gibson, K M 2013, ' Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD) ', Frontiers in Human Neuroscience, vol. 7, pp. 858 . https://doi.org/10.3389/fnhum.2013.00858

We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4–14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydr

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http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00858/full