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There was no enhancement of the adjacent cerebellar parenchyma or meninges (Fig
The relevance of recognising this disorder lies in the reversibility of hyperammonaemia and prevention of permanent neurological damage and death.4 Genetic counselling of all relatives is mandatory
Class I mutants due to nonsense mutations can potentially be corrected by aminoglycoside antibiotics by decreasing the codon-anticodon fidelity, resulting in read-through of the premature stop codon
Wozniak, A
Patients may seek treatment for removal of labial hyperpigmented macules based on aesthetic consideration
