Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview

BACKGROUND: Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide. METHODS: We demonstrated 14 previously undescribed...

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Detalles Bibliográficos
Autores principales: Dai, Weiqian, Lu, Deyun, Gu, Xuefan, Yu, Yongguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057092/
https://www.ncbi.nlm.nih.gov/pubmed/31975548
http://dx.doi.org/10.1002/mgg3.1143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057092/
https://www.ncbi.nlm.nih.gov/pubmed/31975548
http://dx.doi.org/10.1002/mgg3.1143

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