Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
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
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Valaperta R et al.
Bmc Nephrology, 2014
A Rare Genetic Mutation in a Stone Former.
Raj TY et al.
Indian Journal of Nephrology, 0
Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review.
Rashid I et al.
Jornal Brasileiro De Nefrologia, 0
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