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

Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli

Source: Molecular Genetics and Metabolism Reports - May 7, 2020 Category: Genetics & Stem Cells Source Type: research