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Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
X-linked creatine transporter deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene on Xq28. We here report a 3-year-old boy with global developmental delay, autism and epilepsy. He had a normal MRI of the brain. Brain magnetic resonance spectroscopy (MRS) sub...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7747534/ https://ncbi.nlm.nih.gov/pubmed/33334757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-237542 |
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