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Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
Aromatic l-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often severe cognitive and motor delay, with a complex movement dis...
Autores principales: | Rossignoli, Giada, Krämer, Karolin, Lugarà, Eleonora, Alrashidi, Haya, Pope, Simon, De La Fuente Barrigon, Carmen, Barwick, Katy, Bisello, Giovanni, Ng, Joanne, Counsell, John, Lignani, Gabriele, Heales, Simon J R, Bertoldi, Mariarita, Barral, Serena, Kurian, Manju A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418346/ https://www.ncbi.nlm.nih.gov/pubmed/33734312 http://dx.doi.org/10.1093/brain/awab123 |
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