Adenine phosphoribosyltransferase deficiency

  title={Adenine phosphoribosyltransferase deficiency},
  author={H. Anne Simmonds and Georges Van den Berghe},
Key-words Disease name and synonyms Definition Excluded diseases Diagnosis criteria Differential diagnosis Prevalence Molecular defect Clinical description Management including treatment Etiology Diagnostic methods Antenatal diagnosis Unresolved questions References Abstract Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP (adenosine… CONTINUE READING