Hathaway, Samantha C

X-linked creatine transporter deficiency presenting as a mitochondrial disorder. [electronic resource] - Journal of child neurology Aug 2010 - 1009-12 p. digital

Publication Type: Case Reports; Journal Article

1708-8283

10.1177/0883073809352109 doi


Adolescent
Biomarkers--analysis
Creatine--analysis
Diagnosis, Differential
Genetic Diseases, X-Linked--genetics
Humans
Inclusion Bodies--genetics
Male
Mitochondria--genetics
Mitochondrial Diseases--diagnosis
Nerve Tissue Proteins--deficiency
Oxidative Stress--genetics
Plasma Membrane Neurotransmitter Transport Proteins--deficiency