Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and de...
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| Main Authors: | , , , , , |
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| Format: | Book |
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MDPI AG,
2023-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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