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First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed...

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Detalles Bibliográficos
Autores principales:	Guevara-Campos, José, González-Guevara, Lucía, Guevara-González, José, Cauli, Omar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628273/ https://www.ncbi.nlm.nih.gov/pubmed/31200524 http://dx.doi.org/10.3390/brainsci9060137

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