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Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis
OBJECTIVE: To expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition and to evaluate the therapeutic effects of biotin supplementation in an adult patient with biotinidase deficiency (BD). METHODS: We performed exome sequencing (ES) in a patient with the clinical diag...
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| Pubblicato in: | Neurol Genet |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7577526/ https://ncbi.nlm.nih.gov/pubmed/33134520 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000525 |
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