Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. [electronic resource]
Producer: 20171218Description: 45-52 p. digitalISSN:- 1873-5150
- Adolescent
- Atrophy -- blood
- Brain Diseases, Metabolic, Inborn -- blood
- Child
- Creatine -- blood
- Female
- Genotype
- Humans
- Intellectual Disability -- blood
- Male
- X-Linked Intellectual Disability -- blood
- Middle Aged
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Phenotype
- Plasma Membrane Neurotransmitter Transport Proteins -- blood
- White Matter -- diagnostic imaging
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Publication Type: Case Reports; Journal Article
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