Peroxisomal acyl⁃CoA oxidase deficiency: one case report and literature review
Objective To report a case of peroxisomal acyl⁃CoA oxidase (ACOX1) deficiency, which was caused by an unreported mutation of ACOX1 gene, and review its clinical characteristics. Methods and Results The male child patient suffered from neonatal hypotonia，developmental retardation and epilepsy seizure...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Tianjin Huanhu Hospital
2021-04-01
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| Collection: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Sujets: | |
| Accès en ligne: | http://www.cjcnn.org/index.php/cjcnn/article/view/2310 |
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