ArticleKidney international reports2025
Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.
Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence.Pediatric nephrology (Berlin, Germany) · 2026Article
- Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group survey.Clinical kidney journal · 2026Article
- Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Orphanet journal of rare diseases · 2025Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with certainty. Early diagnosis and treatment are mandatory to avoid renal failure or sequalae associated with persistent hyperoxaluria. Methods: This prospective pilot study was undertaken within the framework of the German NBS. DNA samples extracted from dried blood spot cards were screened by multiplex polymerase chain reaction (PCR) for the 2 most prevalent variants: Results: Between March 15, 2022 and June 30, 2023, additional screening for PH1 and PH3 was performed in 77,199 out of 222,638 newborns included in the regular NBS program. No homozygous individuals, but 274 potential carriers for the Conclusion: This pilot study demonstrates the efficacy of a genomic neonatal screening program for PH even in relatively small cohorts.
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