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...

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Bibliografiske detaljer
Main Authors: Anselm, I. M., Alkuraya, F. S., Salomons, G. S., Jakobs, C., Fulton, A. B., Mazumdar, M., Rivkin, M., Frye, R., Poussaint, T. Young, Marsden, D.
Format: Artigo
Sprog:Inglês
Udgivet: 2006
Fag:
Article
Online adgang: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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