Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
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
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Ubiquitylation
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Nozue H et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
[Adenine phosphoribosyltransferase (APRT) deficiency].
Taniguchi A
Ryoikibetsu Shokogun Shirizu, 1998
Renal stones in two children with two rare etiologies.
Kumar G et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0
Select a paper to view details