Publications by authors named "Ana Bergua"
Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and liver transplantation. The aim of this study was to describe the characteristics and indication of liver transplantation in UCD in a tertiary hospital.
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- - The study emphasizes the importance of genetic analysis as a follow-up to suspected metabolic disorders found in newborns during screening in Spain, by utilizing advanced sequencing techniques like next-generation sequencing.
- - Out of 141 DNA samples tested, 59% confirmed the suspected metabolic diseases, while other cases either showed single variants or no variants, and 11 false positives were recorded.
- - The findings suggest that combining genetic analysis with biochemical tests enhances the diagnosis accuracy for metabolic disorders in newborns, potentially confirming more cases than traditional methods alone.