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Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population

Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental...

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Detalles Bibliográficos
Autores principales: Bisello, Giovanni, Bertoldi, Mariarita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570296/
https://www.ncbi.nlm.nih.gov/pubmed/36232540
http://dx.doi.org/10.3390/ijms231911238