Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5′ nucleotidase deficiency: 25 years later
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,Oncology
Reference88 articles.
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3. Adenosine 3′:5′-cyclic monophosphate (cAMP)-inducible pyrimidine 5′-nucleotidase and pyrimidine nucleotide metabolism of chick embryonic erythrocytes;Dragon;Blood,1998
4. Age-related red cell enzymes in children with transient erythroblastopenia of childhood and with hemolytic anemia;Beutler;Pediatric Research,1985
5. Hereditary hemolytic anemia with human erythrocyte pyrimidine 5′-nucleotidase deficiency;Valentine;Journal of Clinical Investigation,1974
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1. A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency;Cellular & Molecular Biology Letters;2022-11-24
2. A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5′-Nucleotidase Deficiency: A Case Report;Journal of Pediatric Hematology/Oncology;2019-11
3. Red Blood Cell Enzyme Disorders;Pediatric Clinics of North America;2018-06
4. Squeezing for Life – Properties of Red Blood Cell Deformability;Frontiers in Physiology;2018-06-01
5. Inherited anaemias: sickle cell and thalassaemia;Medicine;2017-04
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