Clinical diversity of pyruvate dehydrogenase deficiency

This publication has 28 references indexed in Scilit:

• Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders
  Journal of Inherited Metabolic Disease, 1993
• Pyruvate dehydrogenase E1α deficiency
  Journal of Inherited Metabolic Disease, 1992
• Regional variation in brain lactate in leigh syndrome by localized ¹H magnetic resonance spectroscopy
  Annals of Neurology, 1991
• Sedation in children scanned with high-field magnetic resonance; the experience at The Hospital for Sick Children, Great Ormond Street
  The British Journal of Radiology, 1990
• Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status
  Genomics, 1990
• Isolated and Combined Deficiencies of the α‐Keto Acid Dehydrogenase Complexes^a
  Annals of the New York Academy of Sciences, 1989
• Cerebral metabolism in man after acute stroke: New observations using localized proton NMR spectroscopy
  Magnetic Resonance in Medicine, 1989
• Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex
  Journal of Inherited Metabolic Disease, 1987
• Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex
  The Journal of Pediatrics, 1987
• The activity of pyruvate dehydrogenase in rat brain during postnatal development
  FEBS Letters, 1974