Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging
A Newmeyer, KM Cecil, M Schapiro… - … of Developmental & …, 2005 - journals.lww.com
Several case reports describe children with global developmental delay who have brain
creatine deficiency, where the deficiency was due to a lack of creatine transport into the
brain or altered creatine synthesis. The purpose of this study was to determine what
percentage of males with developmental delay referred for brain magnetic resonance
imaging (MRI) at the authors' institution in a 12-month period was found to have brain
creatine deficiency due to a defect in the creatine transporter gene. In the authors' facility …
creatine deficiency, where the deficiency was due to a lack of creatine transport into the
brain or altered creatine synthesis. The purpose of this study was to determine what
percentage of males with developmental delay referred for brain magnetic resonance
imaging (MRI) at the authors' institution in a 12-month period was found to have brain
creatine deficiency due to a defect in the creatine transporter gene. In the authors' facility …