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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Detalles Bibliográficos
Autores principales: Radelfahr, Florentine, Riedhammer, Korbinian M., Keidel, Leonie F., Gramer, Gwendolyn, Meitinger, Thomas, Klopstock, Thomas, Wagner, Matias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577526/
https://www.ncbi.nlm.nih.gov/pubmed/33134520
http://dx.doi.org/10.1212/NXG.0000000000000525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577526/
https://www.ncbi.nlm.nih.gov/pubmed/33134520
http://dx.doi.org/10.1212/NXG.0000000000000525

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