Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype *
MOLECULAR GENETICS AND METABOLISM REPORTS(2020)
Abstract
Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations.
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Key words
Adenylosuccinate lyase deficiency,Purine metabolism,Exome sequencing,Autophagy
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