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  • Title: Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
    Author: Yadav GC, Reavey PC.
    Journal: J Inherit Metab Dis; 1988; 11(3):277-84. PubMed ID: 3148069.
    Abstract:
    We present a summary of the results of quantitative amino acid analysis in 800 subjects over a three-year period in Al-Sabah Hospital, Kuwait. Thirty-five patients with aminoacidopathy were identified, all but two of whom were the offspring of first-degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non-ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.
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