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MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, particu...
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| Publicado no: | Radiol Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7846898/ https://ncbi.nlm.nih.gov/pubmed/33552330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.radcr.2021.01.021 |
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