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Inborn errors of purine metabolism: clinical update and therapies

27 Jun 2014

Abstract excerpt

Inborn errors of purine metabolism exhibit broad neurological, immunological, haematological and renal manifestations. Limited awareness of the phenotypic spectrum, the recent descriptions of newer disorders and considerable genetic heterogeneity, have contributed to long diagnostic odysseys for affected individuals. These enzymes are widely but not ubiquitously distributed in human tissues and are crucial for...

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PMID: 24972650
DOI: 10.1007/s10545-014-9731-6

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