Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare 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 DDC gene injected into the putamen i...

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Detalles Bibliográficos
Autores principales: Rizzi, Susanna, Spagnoli, Carlotta, Bellini, Melissa, Cesaroni, Carlo Alberto, Spezia, Elisabetta, Bergonzini, Patrizia, Caramaschi, Elisa, Soliani, Luca, Turco, Emanuela Claudia, Piccolo, Benedetta, Demuth, Laura, Cordelli, Duccio Maria, Biasucci, Giacomo, Frattini, Daniele, Fusco, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530573/
https://www.ncbi.nlm.nih.gov/pubmed/37761968
http://dx.doi.org/10.3390/genes14091828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530573/
https://www.ncbi.nlm.nih.gov/pubmed/37761968
http://dx.doi.org/10.3390/genes14091828

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