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Adenylosuccinate lyase deficiency

  1. Novel features in the evolution of adenylosuccinate lyase deficiency.
  2. Neurological disorders of purine and pyrimidine metabolism.
  3. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
  4. HPLC analysis for the clinical-biochemical diagnosis of inborn errors of metabolism of purines and pyrimidines.
  5. [Differential protein analysis on the root response of rice with high phosphorous uptake efficiency to low phosphorous stress].
  6. Correlation between polymorphisms in ADSL and GARS-AIRS-GART genes with inosine 5'-monophosphate (IMP) contents in Beijing-you chickens.
  7. In Vitro Hybridization and Separation of Hybrids of Human Adenylosuccinate Lyase from Wild Type and Disease-Associated Mutant Enzymes.
  8. Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
  9. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency.
  10. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
  11. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
  12. Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
  13. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
  14. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.
  15. Pediatric neurological syndromes and inborn errors of purine metabolism.
  16. Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.
  17. Biochemical and Biophysical Analysis of Five Disease-Associated Human Adenylosuccinate Lyase Mutants.