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Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

12 Oct 2024

Abstract excerpt

Introduction Newborn Screening programs for a defined set of eligible diseases have been enormously successful, but genomic newborn screening allowing for detection of additional treatable disorders has not been broadly implemented. All three types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with...

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PMID: 39810772
DOI: 10.1016/j.ekir.2024.10.006

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