Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry

Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the DDC gene, leading to a deficit of AADC, a pyridoxal 5′-phosphate requiring enzyme that catalyzes the decarboxylation of L-Dopa and L-5-hydroxytryptophan in dopamine a...

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Detalles Bibliográficos
Autores principales: Montioli, Riccardo, Borri Voltattorni, Carla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8003434/
https://www.ncbi.nlm.nih.gov/pubmed/33808712
http://dx.doi.org/10.3390/ijms22063146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8003434/
https://www.ncbi.nlm.nih.gov/pubmed/33808712
http://dx.doi.org/10.3390/ijms22063146

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