Disease: Adenine phosphoribosyltransferase deficiency
- A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment
- A Case Report of 2,8-Dihydroxyadenine Urolithiasis
- Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review
- Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review
- Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
- An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency
- Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series
- Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy
- Development of an APRT-deficient CHO cell line and its ability of expressing recombinant protein
- Foreign body granuloma with crystals, recurrent kidney stones, in a patient with adenine phosphoribosyltransferase deficiency
- Hepatic Nampt Deficiency Aggravates Dyslipidemia and Fatty Liver in High Fat Diet Fed Mice
- Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency
- Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center
- NAD + salvage governs mitochondrial metabolism, invigorating natural killer cell antitumor immunity
- NAD<sup>+</sup> centric mechanisms and molecular determinants of skeletal muscle disease and aging
- NAMPT mitigates colitis severity by supporting redox-sensitive activation of phagocytosis in inflammatory macrophages
- NAMPT-derived NAD+ fuels PARP1 to promote skin inflammation through parthanatos cell death
- Optimization and validation of a UPLC-MS/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasma
- Quantitation of Purine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry
- Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist
- Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review
- Research progress on renal calculus associate with inborn error of metabolism
- The Depletion of NAMPT Disturbs Mitochondrial Homeostasis and Causes Neuronal Degeneration in Mouse Hippocampus
- The Involvement of Sirtuin 1 Dysfunction in High-Fat Diet-Induced Vascular Dysfunction in Mice
- Urinary 2,8-dihydroxyadenine crystals in a patient with adenine phosphoribosyltransferase deficiency
- Urinary Crystals with 2,8-Dihydroxyadeninuria