X-linked creatine transporter deficiency presenting as a mitochondrial disorder. [electronic resource]
Producer: 20110222Description: 1009-12 p. digitalISSN:- 1708-8283
- 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
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Publication Type: Case Reports; Journal Article
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