A carregar...

Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)

This boy presented with ADHD at 3 years and at 8 years was hyperactive with no documented hypoglycemia and had myopathy, cardiomyopathy, and very low serum carnitine. L‐carnitine improved his exercise intolerance, cardiomyopathy, and behavior. Analysis of SLC22A5 revealed a premature stop codon (p.R...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Lamhonwah, Anne‐Marie, Barić, Ivo, Lamhonwah, Jessica, Grubić, Marina, Tein, Ingrid
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5889263/
https://ncbi.nlm.nih.gov/pubmed/29636919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1316
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!