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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...

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Detalles Bibliográficos
Autores principales:	Lamhonwah, Anne‐Marie, Barić, Ivo, Lamhonwah, Jessica, Grubić, Marina, Tein, Ingrid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889263/ https://www.ncbi.nlm.nih.gov/pubmed/29636919 http://dx.doi.org/10.1002/ccr3.1316

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