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

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 ASD. Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant imp...

Ful tanımlama

Detaylı Bibliyografya
Asıl Yazarlar: Martha eSpilioti, Athanasios eEvangeliou, Despoina eTramma, Zoe eTheodoridou, Spyridon eMetaxas, Eleni eMichailidi, Eleni eBonti, Helen eFrysira, Katerina eHaidopoulou, Despoina eAsprangathou, Aggelos eTsalkidis, Panagiotis eKardaras, Ron eWevers, Cornelis eJakobs, Michael eGibson
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2013-12-01
Seri Bilgileri:Frontiers in Human Neuroscience
Konular:
Biotin
Ketogenic Diet
autism
Inborn errors of metabolism
phenylketonuria
3-hydroxyisovaleric acid
Online Erişim:http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00858/full

Internet

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

Benzer Materyaller