Browsing Electronic Theses and Dissertations by Subject "BAC"
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(2006-06-07)Department: Molecular Physiology and BiophysicsCarbamyl phosphate synthetase I (CPSI) is the liver-specific enzyme that catalyzes the first and rate-determining step of the urea cycle. Mutations in the CPSI gene cause CPSI Deficiency (CPSID), an autosomal recessive ...