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X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal. However, creatine in urine and p...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The American Society of Human Genetics
2001
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1226136/ https://ncbi.nlm.nih.gov/pubmed/11326334 |
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