X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Bizzi, Alberto

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. [electronic resource] - Annals of neurology Aug 2002 - 227-31 p. digital

Publication Type: Case Reports; Journal Article

0364-5134

10.1002/ana.10246 doi


Administration, Oral
Brain--metabolism
Creatine--blood
Genetic Linkage
Humans
Infant
Magnetic Resonance Spectroscopy
Male
Membrane Transport Proteins--genetics
Metabolism, Inborn Errors--drug therapy
Mutation
Syndrome
Treatment Failure
X Chromosome--genetics