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Titlebook: Membrane Transporter Diseases; Stefan Bröer,Carsten A. Wagner Book 2003 Springer Science+Business Media New York 2003 ATP.Amino acid.Aspar

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Iron transporter ferroportin FPN1acity of readily exchanging electrons in aerobic conditions makes iron essential for fundamental cell functions, such as DNA synthesis, transport of oxygen and electrons, and cell respiration. In fact, iron deprivation threatens cell survival, thus making iron deficiency in humans a public health pr
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Introductionar processes and the second is the transport of building blocks during synthesis and breakdown of macromolecules. The two functions are discussed together because there are significant overlaps between them. For example, glucose is the main cellular energy metabolite but in addition is a building bl
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Glucose-6-phosphate transporter: the key to glycogen storage disease type IbSD-I was described first by von Gierke (1929) as hepatonephromegalia glycogenia. Later, Cori and Cori (1952) showed that the underlying condition of the disease was an absence of glucose-6-phosphatase (G6Pase) activity in hepatic tissues. As increasing numbers of patients with the clinical symptoms
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Thiamine-responsive megaloblastic anemia (TRMA) syndrome: consequences of defective high-affinity thinged sideroblasts, diabetes mellitus, and progressive sensorineural deafness. It is an autosomal recessive disorder reported in fewer than 30 families (.). In addition to the cardinal triad of anemia, deafness, and diabetes, other manifestations, including optic atrophy, cardiomyopathy, and stroke-
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