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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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2024-05-01
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Series: | Нервно-мышечные болезни |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/604 |
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