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Epidemiology Gamma-glutamyl transpeptidase deficiency is a very rare disease, which has been reported in seven patients in five families worldwide [3337]
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Even though the 3D structure of OCTN2 is still not known, the molecular determinants for substrate specificity have been revealed: one ammonium and one carboxylate groups are strictly required for transport, while the distance between them is not important (Ohashi et al., 2002
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