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Keywords: Anaemia
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Journal Articles
Dis Model Mech (2018) 11 (5): dmm034678.
Published: 21 May 2018
... be effectively rescued. Erythropoiesis N-ethyl-N-nitrosourea Anaemia TPI deficiency Transplantation Triosephosphate isomerase (TPI, or TIM) is an anaerobic glycolysis enzyme encoded by the TPI1 gene at chromosomal position 12p13 in humans ( Ralser et al., 2008 ). It is responsible...
Journal Articles
Dis Model Mech (2017) 10 (8): 1005–1013.
Published: 1 August 2017
..., therefore reducing the total CPOX protein by 50% in the heterozygote. Anaemia manifests due to insufficient haem availability, while porphyrins, such as uroporphyrinogen and coproporphyrinogen III, are excreted in the urine and faeces in excess because of a blockage in the haem biosynthesis pathway...