Aromatic L-amino acid decarboxylase deficiency – disease under the masks of cerebral palsy and epilepsy

Aromatic L‑amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. The disease manifests in early childhood with nonspecific symptoms such as hypotension, movem...

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Bibliographic Details
Main Author: N. V. Chebanenko
Format: Article
Language:Russian
Published: ABV-press 2024-05-01
Series:Нервно-мышечные болезни
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/604
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