Genetic metabolic diseases

• NHLRC1-associated Lafora disease
  30 June 2011
• generalized respiratory chain deficiency
  27 June 2011
• multiple respiratory chain deficiency
  27 June 2011
• combined oxidative phosphorylation deficiency
  26 June 2011
• mtDNA depletion
  25 June 2011
• congenital defect in bile acid synthesis type 2
  17 May 2011
• unclassified amylopectinosis
  6 April 2011
• cobalamin deficiency type C
  14 March 2011
• mucopolysaccharidosis type 6
  14 March 2011
• neonatal hyperammonemia
  9 February 2011

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