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Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human AADC gene into t...

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Detalles Bibliográficos
Autores principales: Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Pisani, Francesco, Fusco, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578880/
https://www.ncbi.nlm.nih.gov/pubmed/36268467
http://dx.doi.org/10.1155/2022/2210555