Matches in DBpedia 2016-04 for { ?s ?p "Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965.It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide."@en }
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- Triosephosphate_isomerase_deficiency abstract "Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965.It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.".
- Q458099 abstract "Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965.It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.".
- Triosephosphate_isomerase_deficiency comment "Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965.It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.".
- Q458099 comment "Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965.It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. The disease is exceptionally rare with fewer than 100 patients diagnosed worldwide.".