Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
37849991 (PubMed )
Supplement: mmc1.pdf
Mitochondrial protein import and human health and disease.
MacKenzie JA et al.
Biochimica Et Biophysica Acta, 2007
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).
Stratakis CA
Annals of the New York Academy of Sciences, 2002
Patterns of genetic alterations in pancreatic cancer: a pooled analysis.
Blanck HM et al.
Environmental and Molecular Mutagenesis, 1999
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