Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Lignende værker

• Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
  af: Deeb, Kristin K., et al.
  Udgivet: (2014)
• A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency
  af: Bedoyan, Jirair K., et al.
  Udgivet: (2019)
• Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency
  af: Bedoyan, Jirair K., et al.
  Udgivet: (2017)
• Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
  af: Bedoyan, Jirair K., et al.
  Udgivet: (2020)
• Pyruvate dehydrogenase deficiency.
  af: Brown, G K, et al.
  Udgivet: (1994)