Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Annalisa Madeo,Maja Di Rocco,Anaïs Brassier,Nadia Bahi-Buisson,Pascale De Lonlay,Irène Ceballos-Picot

Molecular Genetics and Metabolism（2019）

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摘要

The present study improves the knowledge of the natural history of HPRT deficiency and could represent a starting point for the development of future management guidelines.

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关键词

HPRT deficiency,Lesch-Nyhan disease,HND,Hyperuricemia,Disease management,Prognosis

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