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The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare neurotransmitter metabolic disorder caused by DDC gene mutations, which leads to the metabolic disturbance of dopamine and serotonin. Most of the reported cases came from Taiwan China, but patients from mainland China were seldomly rep...

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Bibliografiske detaljer
Udgivet i:J Hum Genet
Main Authors: Wen, Yongxin, Wang, Jiaping, Zhang, Qingping, Chen, Yan, Bao, Xinhua
Format: Artigo
Sprog:Inglês
Udgivet: Springer Singapore 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7387242/
https://ncbi.nlm.nih.gov/pubmed/32409695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0770-6
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