Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings

Pyruvate dehydrogenase (PDH) deficiency is one of the most common causes of congenital lactic acidosis. Correlations between the genetic defect and neuroimaging findings are lacking. We present conventional and diffusion-weighted MRI findings in a 7-day-old male neonate with PDH deficiency due to a...

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Detalhes bibliográficos
Autor principal: Soares-Fernandes, JP (author)
Outros Autores: Teixeira-Gomes, R (author), Cruz, R (author), Ribeiro, M (author), Magalhães, Z (author), Rocha, JF (author), Leijser, LM (author)
Formato: article
Idioma:eng
Publicado em: 2012
Assuntos:
Piruvato Desidrogenase
Mutação
Recém-Nascido
Ressonância Magnética
Texto completo:http://hdl.handle.net/10400.23/335
País:Portugal
Oai:oai:repositorio.hospitaldebraga.pt:10400.23/335

Texto Completo

http://hdl.handle.net/10400.23/335

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