Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults

BACKGROUND: We describe two adult brothers with lower limb neuropathy and one with progressive optic neuropathy. One brother was found to have profound biotinidase deficiency by identifying biallelic pathogenic variants of the BTD gene by whole exome sequencing, which was confirmed by markedly decre...

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Detalles Bibliográficos
Autores principales: Kellom, Elizabeth, Stepien, Kimberly, Rice, Gregory, Wolf, Barry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750409/
https://www.ncbi.nlm.nih.gov/pubmed/33364171
http://dx.doi.org/10.1016/j.ymgmr.2020.100696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750409/
https://www.ncbi.nlm.nih.gov/pubmed/33364171
http://dx.doi.org/10.1016/j.ymgmr.2020.100696

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