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DNA analysis of Ornithine Transcarbamylase (OTC) deficiency in South African patients
Hyperammonaemia is not an infrequent presentation in the newborn or neonatal period. While the majority are transitory in nature and due to infective processes or liver pathology/immaturity, a significant number are due to defects in enzymes of the urea cycle. This cycle has evolved to cope with was...
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| Format: | Thesis |
| Language: | English |
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Division of Chemical Pathology
2018
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