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Disease: Inborn branched chain aminoaciduria

  • Bogus branched-chain aminoaciduria
  • LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE)
  • Metabolic disorders of branched-chain amino acids: most common forms of organic aciduria in the neonatal period
  • Ophthalmoplegia as a sign of metabolic disease in the newborn
  • The relationship between the urinary level of some amino acids and the occurrence of metabolic diseases associated with psychic disorders
  • Unusual association between lysinuric protein intolerance and moyamoya vasculopathy
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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