Browsing Research Articles (Paediatrics and Child Health) by Subject "Ornithine transcarbamylase deficiency (OTCD)"

Browsing Research Articles (Paediatrics and Child Health) by Subject "Ornithine transcarbamylase deficiency (OTCD)"

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  • Stepien, Karolina M.; Geberhiwot, Tarekegn; Hendriksz, Christian J.; Treacy, Eileen P. (Wiley, 2019-11)
    Urea cycle disorders (UCD) are a group of rare inherited metabolic conditions of amino acid catabolism caused by an enzyme deficiency within the hepatic ammonia detoxification pathway. The presentation of these disorders ...