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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Adenosine monophosphate deaminase deficiency

  1. Proteinuria in AMPD2-deficient mice.
  2. The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?
  3. Vitamin C deficiency activates the purine nucleotide cycle in zebrafish.
  4. Is the C34T Polymorphism of the AMPD1 Gene Associated with Athlete Performance in Rowing?
  5. Heroin affects purine nucleotides metabolism in rat brain.
  6. Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency.
  7. AMPD3 is involved in anthrax LeTx-induced macrophage cell death.
  8. [Genetic marker of statin-induced rhabdomyolysis].
  9. Primary Adenosine Monophosphate Deaminase Deficiency in a Hypotonic Infant.
  10. Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.
  11. Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.