Purine-Pyrimidine Metabolism, Inborn Errors
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Subject Areas on Research
- A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.
- Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients.
- Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
- An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.
- Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.
- Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.
- Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.
- Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
- Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination.
- Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients.
- Purine nucleoside phosphorylase deficiency.
- Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans.
- polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency.