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,...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Bordi, Matteo, Testa, Beatrice, Weber, Gerrit, Bellacchio, Emanuele, Tartaglia, Marco, Cecconi, Francesco, Bartuli, Andrea
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7210596/
https://ncbi.nlm.nih.gov/pubmed/32405461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100592
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