References
- SalbertBAAstrucJWolfBOphthalmologic findings in biotinidase deficiencyOphthalmologica199320641771818278163
- RahmanSStandingSDaltonRNPikeMGLate presentation of biotinidase deficiency with acute visual loss and gait disturbanceDev Med Child Neurol199739128308319433860
- LottITLottenbergSNyhanWLBuchsbaumMJCerebral metabolic change after treatment in biotinidase deficiencyJ Inherit Metab Dis19931623994078412000
- WolfBPomponioRJNorrgardKJDelayed-onset profound biotinidase deficiencyJ Pediatr199813223623659506660
- RamaekersVTSuormalaTMBrabMDuranRHeimannGBaumgartnerERA biotinidase Km variant causing late onset bilateral optic neuropathyArch Dis Child19926711151191739323
- CampanaGValentiniGLegnaioliMIGiovannucci-UzielliMLPavariEOcular aspects in biotinidase deficiency. Clinical and genetic original studiesOphthalmic Paediatr Genet1987821251293658339
- CoşkunTTokatliAOzalpIInborn errors of biotin metabolism. Clinical and laboratory features of eight casesTurk J Pediatr19943642672787825232
- WolfBHeardGSWeissbeckerKAMcVoyJRGrierRELeshnerRTBiotinidase deficiency: initial clinical features and rapid diagnosisAnn Neurol19851856146174073853
- Puertas BordalloDMartín ReyesCRuiz-Falcó RojasMLDuat RodríguezAValls FerránMIOptic neuropathy in biotinidase deficiencyArch Soc Esp Oftalmol2004798393396 Spanish15306966
- YangYLiCQiZSpinal cord demyelination associated with biotinidase deficiency in 3 Chinese patientsJ Child Neurol200722215616017621476
- PubMed.govNational Center for Biotechnology Information, US National Library of Medicine, National Institutes of Health
- HuizingMBrooksBPAniksterYOptic atrophies in metabolic disordersMol Genet Metab2005861–2516016194617
- TischlerMEBiotin (Biotinidase) deficiencyUniversity of Arizona Available from: htttp://www.wohproject.org/pdfs/biotin-deficiency.pdf
- National Eye Institute (NEI)Optic Neuritis Treatment TrialClinicalTrialsgov [website on the Internet]Bethesda, MDUS National Library of Medicine1999 [updated June 2, 2006]. Available from: http://clinicaltrials.gov/ct2/show/NCT00000146. NLM identifier: NCT00000146Accessed March 1, 2012
- Optic Neuritis Study GroupThe clinical profile of optic neuritis. Experience of the Optic Neuritis Treatment TrialArch Ophthalmol199110912167316781841573