Glutaric aciduria type 1 – the mask cerebral palsy (case report)
We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease, its mimicry of neonatal hypoxic-isch...
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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/577 |
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