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Journal Article
European journal of haematology, ISSN 0902-4441, 2017, Volume 98, Issue 6, pp. 584 - 589
Here, we present a 7-year-old patient suffering from severe haemolytic anaemia. The most common cause of chronic hereditary non-spherocytic haemolytic anaemia... 
PK‐R | pyruvate kinase deficiency | PKM2 | reticulocyte | red blood cell | CELLS | LR GENE | RAT | PK-R | MUTATION | RETICULOCYTES | HEMATOLOGY | Myeloid Cells - cytology | Myeloid Cells - enzymology | Reticulocytes - enzymology | Thyroid Hormones - deficiency | Pyruvate Metabolism, Inborn Errors - enzymology | Humans | Pyruvate Metabolism, Inborn Errors - genetics | Male | RNA, Messenger - metabolism | Glycolysis - genetics | Membrane Proteins - deficiency | Base Sequence | Erythroblasts - enzymology | Cell Differentiation | Reticulocytes - pathology | Child | Pyruvate Metabolism, Inborn Errors - pathology | Gene Expression | Anemia, Hemolytic, Congenital Nonspherocytic - pathology | Membrane Proteins - genetics | RNA, Messenger - genetics | Thyroid Hormones - genetics | Pyruvate Kinase - deficiency | Carrier Proteins - genetics | Homozygote | Anemia, Hemolytic, Congenital Nonspherocytic - enzymology | Consanguinity | Mutation | Primary Cell Culture | Pyruvate Kinase - genetics | Anemia, Hemolytic, Congenital Nonspherocytic - genetics | Erythroblasts - pathology | Glucose metabolism | Medical research | RNA | Anemia | Medicine, Experimental | Nucleotide sequencing | DNA sequencing | Pyruvate kinase | Blood cells | Erythrocytes | Pyruvic acid | Reticulocytes | mRNA | Kinases | Blood | Western blotting | Hemopoiesis | R protein | Life span | Erythroblasts | Glycolysis
Journal Article
American journal of hematology, ISSN 0361-8609, 2015, Volume 90, Issue 3, pp. E35 - E39
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2015, Volume 1852, Issue 1, pp. 61 - 69
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Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3, p. e1005941
Journal Article
Journal Article
Journal Article
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 01/1966, Volume 110, Issue 3, p. 138
Journal Article