Primary hyperoxaluria and measurement of relevant metabolites
The primary hyperoxalurias are inherited disorders of urine oxalate overproduction that have significant morbidity and mortality. This article briefly reviews the three known disorders, their presentation, biochemical diagnosis and treatment strategies highlighting preanalytical and analytical issues raised with mass spectrometric methodologies. by Felicity Stokes and Dr Gill Rumsby Introduction The primary hyperoxalurias (PHs) are inherited […]
