Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. [electronic resource]
- Journal of inherited metabolic disease Jan 2012
- 141-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1573-2665
10.1007/s10545-011-9345-1 doi
Amino Acid Transport Disorders, Inborn--genetics Arginine--metabolism Brain--pathology Child Child, Preschool Chromosomes, Human, X Creatine--therapeutic use Genes, X-Linked Glycine--therapeutic use Humans Infant Intelligence Tests Magnetic Resonance Spectroscopy--methods Male Membrane Transport Proteins--genetics Neurons--metabolism