Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp, Jiddeke M

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