All Stories

  1. Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
  2. A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria
  3. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
  4. Encephalocraniocutaneous lipomatosis with Wilms' tumor