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

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

Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations.We present a very mild phenotype of two siblings characterized by mild isolated cognitive disability, in absence of brain anomalies, seizures, E...

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Bibliographic Details
Main Authors: Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Adenylosuccinate lyase deficiency
Purine metabolism
Exome sequencing
Autophagy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300380

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http://www.sciencedirect.com/science/article/pii/S2214426920300380

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