Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
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International Urology and Nephrology, 2025
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
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European Journal of Human Genetics : Ejhg, 2021
33707627 (PubMed )
Supplement: 41431_2020_805_MOESM1_ESM.docx
Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.
Ceballos-Picot I et al.
Kidney International Reports, 2019
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