Article
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Magnetic resonance imaging - 1 Jul 1999
Rubio-Gozalbo M E, Heerschap A, Trijbels J M, De Meirleir L, Thijssen H O, Smeitink J A
Abstract excerpt
The purpose of this study was the non-invasive quantitative determination by proton MR Spectroscopy (1H MRS) of alterations in cerebral metabolism in a 19-month-old male infant with severe global developmental delay caused by a Pyruvate Dehydrogenase Complex (PDHC) deficiency due to a mutation at the thiamine binding site. Two investigations were performed at different CSF thiamine concentrations to assess the...
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