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  • Title: Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.
    Author: Altounian L, Perrin J, Fouyssac F, Fenneteau O, Da Costa L, Bahuau M, Leheup B, Jonveaux P, Lesesve JF.
    Journal: Ann Biol Clin (Paris); 2015; 73(5):587-90. PubMed ID: 26489818.
    Abstract:
    A pyrimidine 5'-nucleotidase deficiency in an adult is reported. Interestingly, the P5'N-1 deficiency was associated to a polymalformative syndrome and was characterized by a chronic, pancytopenic evolution with concomitant dyserythropoiesis.
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