Latest Research

  1. Congenital Unilateral Pulmonary …
  2. Lindsay Burn Syndrome
  3. Cleft Palate X-linked
  4. Thanos Stewart Zonana Syndrome
  5. Ciguatera Fish Poisoning
  6. Chromosome 11p- Partial Deletion
  7. Familial Hyperlipoproteinemia Type 1
  8. Cerebellar Degeneration- Subacute
  9. Autosomal Dominant Partial Epilepsy …
  10. Argininosuccinic Aciduria
  11. Aniridia Mental Retardation Syndrome
  12. Alagille Syndrome

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Adenine phosphoribosyltransferase deficiency

  1. 2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney.
  2. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
  3. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
  4. Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant.
  5. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
  6. The Small Molecule GMX1778 is a Potent Inhibitor of NAD+ Biosynthesis: Strategy for Enhanced Therapy in NAPRT1-Deficient Tumors.
  7. Quantitation of NAD+ biosynthesis from the salvage pathway in Saccharomyces cerevisiae.
  8. Role of MUTYH and MSH2 in the control of oxidative DNA damage, genetic instability, and tumorigenesis.
  9. Adenine phosphoribosyltransferase deficiency in a Chinese man with early-onset gout.