Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase
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DOI: 10.1021/acschembio.5c00043
Abstract: Human ornithine transcarbamylase deficiency (OTCD) is the most common ureagenesis disorder in the world. OTCD is an X-linked genetic deficiency in which patients experience hyperammonemia to varying degrees depending on the severity of the genetic… read more here.
Keywords: disease; human ornithine; ornithine transcarbamylase; associated variants ... See more keywords