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[Deficiency of triosephosphate isomerase. Apropos of 2 new cases]
Anales Espanoles De Pediatria
|August 1, 1983
Abstract:
Two siblings, born of a no consanguineous couple, a female and a male, affected by a severe and progressive neurological disease and chronic hemolytic anemia are presented. Their clinical, hematological, biochemical and pathological studies are discussed. One of the patients showed a triosephosphate isomerase deficiency and the carrier condition of their parents was tested. Commentaries about physiopathology of this disease are made.