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Article

Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.

Clinical genetics - 1 Jan 2023

Abid Aiysha, Raza Ali, Khan Abdul Rafay, Firasat Sadaf, Shahid Saba, Hashmi Seema, Zafar Mirza Naqi, Sultan Sajid, Khaliq Shagufta, Rizvi Syed Adib-Ul-Hasan

Abstract excerpt

The primary hyperoxalurias are rare disorders of glyoxylate metabolism. Accurate diagnosis is essential for therapeutic and management strategies. We conducted a molecular study on patients suffering from recurrent calcium-oxalate stones and nephrocalcinosis and screened primary hyperoxaluria causing genes in a large cohort of early-onset cases. Disease-associated pathogenic-variants were defined as missense,...

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PMID: 36185032
DOI: 10.1111/cge.14240

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