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Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Deschamps, Romain; Savatovsky, Julien; Vignal, Catherine; Fisselier, Matthieu; Imbard, Apolline; Wolf, Barry; Procter, Melinda; Gout, Olivier.
Affiliation
  • Deschamps R; Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
  • Savatovsky J; Department of Radiology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
  • Vignal C; Department of Neuro-Ophthalmology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
  • Fisselier M; Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
  • Imbard A; Department of Hormonology and Biochemistry, Robert Debré Hospital, AP-HP, Paris, France.
  • Wolf B; Department of Research Administration, Henry Ford Hospital, Detroit, Michigan, USA.
  • Procter M; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA.
  • Gout O; Research and Development, ARUP Laboratories, Salt Lake, Utah, USA.
J Neurol Neurosurg Psychiatry ; 89(9): 1009-1010, 2018 09.
Article in En | MEDLINE | ID: mdl-29025919
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Nerve Diseases / Biotinidase Deficiency Type of study: Diagnostic_studies Limits: Adolescent / Adult / Humans / Male Language: En Journal: J Neurol Neurosurg Psychiatry Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Nerve Diseases / Biotinidase Deficiency Type of study: Diagnostic_studies Limits: Adolescent / Adult / Humans / Male Language: En Journal: J Neurol Neurosurg Psychiatry Year: 2018 Document type: Article Affiliation country: Country of publication: