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Title: [Deficiency of triosephosphate isomerase. Apropos of 2 new cases]. Author: Delso Martínez MC, Uriel Miñana P, Pérez Lugmus G, Giménez Mas JA, Baldellou Vázquez A. Journal: An Esp Pediatr; 1983 Aug; 19(2):123-7. PubMed ID: 6660640. 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.[Abstract] [Full Text] [Related] [New Search]