Jiddeke M van de Kamp Petra J W Pouwels Femke K Aarsen Leontine W ten Hoopen Dirk L Knol Johannes B de Klerk Ireneus F de Coo Jan G M Huijmans Cornelis Jakobs Marjo S van der Knaap Gajja S Salomons Grazia M S Mancini
10.1007/s10545-011-9345-1
J Inherit Metab Dis
2012 Jan;35(1):141-9.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/21556832/
Amino Acid Transport Disorders, Inborn / therapy Chromosomes, Human, X Membrane Transport Proteins / genetics
Amino Acid Transport Disorders, Inborn / therapy Chromosomes, Human, X Membrane Transport Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Amino Acid Transport Disorders, Inborn / genetics Arginine / metabolism Arginine / therapeutic use Brain / pathology Child Child, Preschool Creatine / therapeutic use Genes, X-Linked Glycine / therapeutic use Humans Infant Intelligence Tests Magnetic Resonance Spectroscopy / methods Male Neurons / metabolism Membrane Transport Proteins creatine transporter Arginine Creatine Glycine
PMC3249187
21556832
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
2012