Literature DB >> 1276472

A family with red cell pyrimidine 5'-nucleotidase deficiency.

I Ben-Bassat, F Brok-Simoni, G Kende, F Holtzmann, B Ramot.   

Abstract

Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.

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Year:  1976        PMID： 1276472

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  8 in total

1.  Three cases of hereditary hemolytic anemia with pyrimidine 5'-nucleotidase deficiency in a Japanese family.

Authors:  S Miwa; K Nakashima; H Fujii; M Matsumoto; K Nomura
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

2.  Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase.

Authors:  R Rosa; H Rochant; B Dreyfus; C Valentin; J Rosa
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

3.  Determination of pyrimidine 5'-nucleotidase (P5N) activity in whole blood as an index of lead exposure.

Authors:  T Sakai; T Araki; K Ushio
Journal:  Br J Ind Med       Date:  1988-06

4.  Purification and properties of human erythrocyte pyrimidine 5'-nucleotidase.

Authors:  J D Torrance; D Whittaker; E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1977-09       Impact factor: 11.205

5.  Lead poisoning. Further observations on erythrocyte pyrimidine-nucleotidase deficiency and intracellular accumulation of pyrimidine nucleotides.

Authors:  D E Paglia; W N Valentine; K Fink
Journal:  J Clin Invest       Date:  1977-12       Impact factor: 14.808

6.  A simplified method for determining erythrocyte pyrimidine 5'-nucleotidase (P5N) activity by HPLC and its value in monitoring lead exposure.

Authors:  T Sakai; K Ushio
Journal:  Br J Ind Med       Date:  1986-12

7.  Detection of pyrimidine 5'-nucleotidase deficiency using 1H- or 31P-nuclear magnetic resonance.

Authors:  T Kagimoto; K Shirono; T Higaki; T Oda; H Matsuzaki; K Nagata; T Nakaji; Y Morino; K Takatsuki
Journal:  Experientia       Date:  1986-01-15

8.  Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase.

Authors:  K Shinohara; K R Tanaka
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132
  8 in total

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