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Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings
Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency. Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements. At 14 years, she presented with motor regression with encephalopathy afte...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410414/ https://www.ncbi.nlm.nih.gov/pubmed/37564434 http://dx.doi.org/10.4103/abr.abr_98_22 |