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Modelling urea cycle disorders using iPSCs - npj Regenerative Medicine

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Modelling urea cycle disorders using iPSCs - npj Regenerative Medicine

The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or transporters involved in the urea cycle and have a prevalence of 1:35,000 live births. Patients present recurrent acute hyperammonaemia, which causes high rate of death and neurological sequelae. Long-term therapy relies on a protein-restricted diet and ammonia scavenger drugs.

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Modelling urea cycle disorders using iPSCs - npj Regenerative Medicine

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