Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
33707627 (PubMed )
Supplement: 41431_2020_805_MOESM1_ESM.docx
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Adenine phosphoribosyltransferase deficiency in children.
Harambat J et al.
Pediatric Nephrology (berlin, Germany), 2012
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