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Erythrocyte Pyrimidine 5‘-Nucleotidase Deficiency

✍ Scribed by Hansen, Thor Willy Ruud ;Seip, Martin ;Verdier, Carl-Henric ;Ericson, ÅKe


Book ID
114789927
Publisher
Wiley (Blackwell Publishing)
Year
2009
Weight
742 KB
Volume
31
Category
Article
ISSN
0036-553X

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We report a hereditary hemolytic anemia associated with a severe erythrocyte pyrimidine 5'-nucleotidase deficiency in a Spanish family of five members in which the parents are first cousins. Both parents exhibited decreased nucleotidase activity without clinical or hematologic abnormalities. Two chi