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  • Title: [Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency].
    Author: Gomirato G, Giaretto G, Bonomi A, Rossi E, Rovere A, Radeschi G, Crosato M.
    Journal: Minerva Pediatr; 1989 Feb; 41(2):105-8. PubMed ID: 2739630.
    Abstract:
    A preliminary undiagnosed case of partial carbamyl-phosphate-synthetase deficiency in a 14 year old patient is described. This extremely rare metabolic disorder is unlikely to produce clinical symptoms at such an advanced age. Details are given of the clinical picture, the diagnosis (by liver biopsy and post mortem liver examination) and the attempts at treatment.
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