Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways

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Title
Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways
Authors
Keywords
Inherited metabolic disease, Genotype–phenotype correlation, Purine metabolism, Purinosome
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 114, Issue 1, Pages 55-61
Publisher
Elsevier BV
Online
2014-11-08
DOI
10.1016/j.ymgme.2014.11.001

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