Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

Por Thompson, Sian A, Calvin, Jacqui, Hogg, Sarah, Ferdinandusse, Sacha, Wanders, Ronald J A, Barker, Roger A
Publicado em 2009

l‐2‐hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model

Por Penderis, Jacques, Calvin, Jacqui, Abramson, Carley, Jakobs, Cornelis, Pettitt, Louise, Binns, Matthew M, Verhoeven, Nanda M, O'Driscoll, Eamonn, Platt, Simon R, Mellersh, Cathryn S
Publicado em 2007