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Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype *

Marina Macchiaiolo,Paola Sabrina Buonuomo,Gerarda Mastrogiorgio,Matteo Bordi,Beatrice Testa,Gerrit Weber,Emanuele Bellacchio,Marco Tartaglia,Francesco Cecconi,Andrea Bartuli

MOLECULAR GENETICS AND METABOLISM REPORTS（2020）

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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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