1.
Prenat Diagn
; 37(12): 1257-1260, 2017 12.
Article
En
| MEDLINE
| ID: mdl-29023902
2.
Ann Biol Clin (Paris)
; 73(5): 587-90, 2015.
Article
En
| MEDLINE
| ID: mdl-26489818
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.
5'-Nucleotidase/deficiency , Anemia, Hemolytic/genetics , Erythrocytes, Abnormal/enzymology , Humans , Male , Pancytopenia/etiology , Young Adult