Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.
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.
Service de génétique, CHU Nancy, France.
Lucille
L
Altounian
Service d'hématologie biologique, CHU Nancy, France.
Julien
J
Perrin
Service d'onco-hématologie pédiatrique, CHU Nancy, France.
Fanny
F
Fouyssac
Laboratoire d'hématologie, AP-HP Hôpital Robert Debré, Paris, France.
Odile
O
Fenneteau
Laboratoire d'hématologie, AP-HP Hôpital Robert Debré, Paris, France.
Lydie
L
Da Costa
Unité de génétique, AP-HP Hôpital Henri Mondor, Créteil, France.
Michel
M
Bahuau
Service de génétique, CHU Nancy, France.
Bruno
B
Leheup
Service de génétique, CHU Nancy, France.
Philippe
P
Jonveaux
Service d'hématologie biologique, CHU Nancy, France.
Jean-François
JF
Lesesve
D015720:5'-Nucleotidase / Q000172:deficiency*; D000743:Anemia, Hemolytic / Q000235:genetics*; D004913:Erythrocytes, Abnormal / Q000201:enzymology*; D006801:Humans; D008297:Male; D010198:Pancytopenia / Q000209:etiology; D055815:Young Adult
D015720:5'-Nucleotidase
P5’N-1; polymalformative syndrome; pyrimidine 5’-nucleotidase deficiency