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X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
We report two unrelated boys with the X-linked creatine transporter defect (CRTR) and clinical features more severe than those previously described with this disorder. These two boys presented at ages 12 and 30 months with severe mental retardation, absent speech development, hypotonia, myopathy and...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2006
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2393549/ https://ncbi.nlm.nih.gov/pubmed/16601897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-006-0123-4 |
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