TY  - GEN
AU  - Bizzi,Alberto
AU  - Bugiani,Marianna
AU  - Salomons,Gajja S
AU  - Hunneman,Donald H
AU  - Moroni,Isabella
AU  - Estienne,Margherita
AU  - Danesi,Ugo
AU  - Jakobs,Cornelis
AU  - Uziel,Graziella
TI  - X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8
SN  - 0364-5134
PY  - 2002///0918
KW  - Administration, Oral
KW  - Brain
KW  - metabolism
KW  - Creatine
KW  - blood
KW  - Genetic Linkage
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Spectroscopy
KW  - Male
KW  - Membrane Transport Proteins
KW  - genetics
KW  - Metabolism, Inborn Errors
KW  - drug therapy
KW  - Mutation
KW  - Syndrome
KW  - Treatment Failure
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ana.10246
ER  -