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Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.

Authors :
Altounian L
Perrin J
Fouyssac F
Fenneteau O
Da Costa L
Bahuau M
Leheup B
Jonveaux P
Lesesve JF
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