A clinical case of severe aromatic L-amino acid decarboxylase deficiency
We present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- speech development and is accompanied by severe episo...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2024-01-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/579 |
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