Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)

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-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, an...

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Detalles Bibliográficos
Autores principales: Spilioti, Martha, Evangeliou, Athanasios E., Tramma, Despoina, Theodoridou, Zoe, Metaxas, Spyridon, Michailidi, Eleni, Bonti, Eleni, Frysira, Helen, Haidopoulou, A., Asprangathou, Despoina, Tsalkidis, Aggelos J., Kardaras, Panagiotis, Wevers, Ron A., Jakobs, Cornelis, Gibson, K. Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2013
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3871708/
https://www.ncbi.nlm.nih.gov/pubmed/24399946
http://dx.doi.org/10.3389/fnhum.2013.00858

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