A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!