Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):1009-1010. doi: 10.1136/jnnp-2017-316644. Epub 2017 Oct 12.

¹ Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
² Department of Radiology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
³ Department of Neuro-Ophthalmology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
⁴ Department of Hormonology and Biochemistry, Robert Debré Hospital, AP-HP, Paris, France.
⁵ Department of Research Administration, Henry Ford Hospital, Detroit, Michigan, USA.
⁶ Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA.
⁷ Research and Development, ARUP Laboratories, Salt Lake, Utah, USA.

No abstract available

Keywords: MRI; neurogenetics; neuroophthalmology.

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