TY  - GEN
AU  - van de Kamp,Jiddeke M
AU  - Pouwels,Petra J W
AU  - Aarsen,Femke K
AU  - ten Hoopen,Leontine W
AU  - Knol,Dirk L
AU  - de Klerk,Johannes B
AU  - de Coo,Ireneus F
AU  - Huijmans,Jan G M
AU  - Jakobs,Cornelis
AU  - van der Knaap,Marjo S
AU  - Salomons,Gajja S
AU  - Mancini,Grazia M S
TI  - Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
SN  - 1573-2665
PY  - 2012///0525
KW  - Amino Acid Transport Disorders, Inborn
KW  - genetics
KW  - Arginine
KW  - metabolism
KW  - Brain
KW  - pathology
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, X
KW  - Creatine
KW  - therapeutic use
KW  - Genes, X-Linked
KW  - Glycine
KW  - Humans
KW  - Infant
KW  - Intelligence Tests
KW  - Magnetic Resonance Spectroscopy
KW  - methods
KW  - Male
KW  - Membrane Transport Proteins
KW  - Neurons
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-011-9345-1
ER  -