TY  - GEN
AU  - Hathaway,Samantha C
AU  - Friez,Michael
AU  - Limbo,Kimberly
AU  - Parker,Colette
AU  - Salomons,Gajja S
AU  - Vockley,Jerry
AU  - Wood,Tim
AU  - Abdul-Rahman,Omar A
TI  - X-linked creatine transporter deficiency presenting as a mitochondrial disorder
SN  - 1708-8283
PY  - 2011///0222
KW  - Adolescent
KW  - Biomarkers
KW  - analysis
KW  - Creatine
KW  - Diagnosis, Differential
KW  - Genetic Diseases, X-Linked
KW  - genetics
KW  - Humans
KW  - Inclusion Bodies
KW  - Male
KW  - Mitochondria
KW  - Mitochondrial Diseases
KW  - diagnosis
KW  - Nerve Tissue Proteins
KW  - deficiency
KW  - Oxidative Stress
KW  - Plasma Membrane Neurotransmitter Transport Proteins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1177/0883073809352109
ER  -