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Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.
- Source :
-
Annales de biologie clinique [Ann Biol Clin (Paris)] 2015 Sep-Oct; Vol. 73 (5), pp. 587-90. - Publication Year :
- 2015
-
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.
Details
- Language :
- English
- ISSN :
- 1950-6112
- Volume :
- 73
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Annales de biologie clinique
- Publication Type :
- Academic Journal
- Accession number :
- 26489818
- Full Text :
- https://doi.org/10.1684/abc.2015.1078