Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency

MeSH terms

• Adenine Phosphoribosyltransferase / deficiency*
• Adenosine Deaminase / deficiency*
• Child
• Chromatography, Ion Exchange
• Electrophoresis
• Humans
• Immunologic Deficiency Syndromes / diagnosis*
• Immunologic Deficiency Syndromes / urine
• Nucleoside Deaminases / deficiency*
• Pentosyltransferases / deficiency*
• Purine-Nucleoside Phosphorylase / deficiency*
• Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
• Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
• Purine-Pyrimidine Metabolism, Inborn Errors / urine
• Purines / urine*