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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Bibliographic Details
Main Author: Soares-Fernandes, JP (author)
Other Authors: Teixeira-Gomes, R (author), Cruz, R (author), Ribeiro, M (author), Magalhães, Z (author), Rocha, JF (author), Leijser, LM (author)
Format: article
Language:eng
Published: 2012
Subjects:
Piruvato Desidrogenase
Mutação
Recém-Nascido
Ressonância Magnética
Online Access:http://hdl.handle.net/10400.23/335
Country:Portugal
Oai:oai:repositorio.hospitaldebraga.pt:10400.23/335

Internet

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

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