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Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1...
Soares-Fernandes, JP; Teixeira-Gomes, R; Cruz, R; Ribeiro, M; Magalhães, Z; Rocha, JF; Leijser, LMPyruvate 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 mosaicism for the R302H mutation in the PDHA1 gene. Corpus callosum dysgenesis, widespread increased diffusion in ...
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1...
Soares-Fernandes, JP; Teixeira-Gomes, R; Cruz, R; Ribeiro, M; Magalhães, Z; Rocha, JF; Leijser, LMPyruvate 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 mosaicism for the R302H mutation in the PDHA1 gene. Corpus callosum dysgenesis, widespread increased diffusion in ...
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