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Veldthuis et al., "Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis," American Journal of Hematology, vol.
The firm plans to start a Phase II clinical trial in patients with pyruvate kinase deficiency in the first half of 2015.
G6PD deficiency, pyruvate kinase deficiency) and haemoglobinopathies (e.g.
Nutritional anemias, such as vitamin B12 or folic acid deficiency may be detected and/or monitored through direct assessment of serum B12 and folate levels (Ioli, 2002), and enzymatic defects such as G6PD and pyruvate kinase deficiency may be identified by specific assay of these enzyme levels (Irwin & Kirchner, 2001).
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