van de Kamp, Jiddeke M
X-linked creatine transporter deficiency: clinical aspects and pathophysiology. [electronic resource]
- Journal of inherited metabolic disease Sep 2014
- 715-33 p. digital
Publication Type: Journal Article; Review
1573-2665
10.1007/s10545-014-9713-8 doi
Amino Acid Metabolism, Inborn Errors--diagnosis
Animals
Brain Diseases, Metabolic, Inborn--complications
Creatine--deficiency
Genetic Diseases, X-Linked--genetics
Humans
Intellectual Disability--etiology
Membrane Transport Proteins--deficiency
X-Linked Intellectual Disability--complications
Mice
Plasma Membrane Neurotransmitter Transport Proteins--deficiency