Aromatic l‐amino acid decarboxylase deficiency in Taiwan

Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inherited disorder that affects neurotransmitter biosynthesis. A DDC founder mutation c.714 + 4A > T (IVS6 + 4A > T) is prevalent in the Chinese population. This study investigated the epidemiology of AADC deficiency in Taiwan by...

Descripción completa

Detalles Bibliográficos
Autores principales: Hwu, Wuh‐Liang, Hsu, Rai‐Hseng, Li, Mei‐Hsin, Lee, Hui‐Min, Chen, Hui‐An, Lee, Ni‐Chung, Chien, Yin‐Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494508/
https://www.ncbi.nlm.nih.gov/pubmed/37701332
http://dx.doi.org/10.1002/jmd2.12387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494508/
https://www.ncbi.nlm.nih.gov/pubmed/37701332
http://dx.doi.org/10.1002/jmd2.12387

Ejemplares similares