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Case Reports

Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect

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Pages 251-253 | Received 18 May 2013, Accepted 10 Jun 2013, Published online: 19 Nov 2013

References

  • Keeton BR, Moosa A. Organic aciduria. Treatable cause of floppy infant syndrome. Arch Dis Child 1976;51:636–638
  • Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Gent Metab 2010;100:6–13
  • Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica 1993;206:177–181
  • Huizing M, Brooks B, Anikster Y. Optic atrophies in metabolic disorders. Mol Genet Metab 2005;86:51–60
  • Ramaekers VT, Suormala TM, Brab M, Duran R, Heimann G, Baumgartner ER. A biotinidase Km variant causing late onset bilateral optic neuropathy. Arch Dis Child 1992;67:115–119
  • Manchester PT, Calhoun FP. Dominant hereditary optic atrophy with bitemporal field defects. AMA Arch Ophthalmol 1958;60:479–484

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