| Document Date: 2010-06-08 17:44:24
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City Neville / Lyon / / Company Brady and associates / BioMed Central Ltd. / Peter Pentchev and associates / Creative Commons / / Continent Europe / / Country Germany / Netherlands / France / United States / Australia / Portugal / United Kingdom / / / IndustryTerm chemical measurement / Brain imaging / / MedicalCondition Language delay / sphingomyelin storage disorder / neurovisceral storage disease / Rare Diseases / lipidoses / cholesterol storage disorder / dysarthria / central hypotonia / dementia / transient visual hallucinations / lysosomal storage disorders / seizures / Fetal hydrops / liver failure / depressive syndrome / atypical cerebral lipidosis / variable cognitive dysfunction / dysfunction / Intention tremor / Severe epilepsy / chorea / adult-onset chronic neurodegenerative disease / dyspraxia / Systemic disease / neurologic disorder / ophthalmoplegia / progressive and fatal neurological disease / adult neurovisceral lipidosis / idiopathic neonatal hepatitis / C. Disease / learning disabilities / disorder / cataplexy and supranuclear gaze palsy / neurodegenerative NP-C disease / acid sphingomyelinase deficiency / Niemann-Pick diseases / severe liver disease / visual hallucinations / obsessive-compulsive disorders / Hearing loss / liver disease / neuronal dysfunction / neurologic symptoms / characteristic vertical supranuclear gaze palsy / chronic course / Action dystonia / ataxia / cerebellar ataxia / rapidly fatal disorder / severe respiratory insufficiency / downgaze paresis / disease / respiratory failure / Parkinsonism / pulmonary alveolar lipoproteinosis / cellular lipid trafficking disorder / autosomal recessive lysosomal lipid storage disorders / dysphagia / giant cell hepatitis / ataxia progresses / neurological disorder / narcolepsy / Niemann-Pick disease / neurological disease / neurological manifestations / C disease / supranuclear gaze palsy / vertical supranuclear ophthalmoplegia / bipolar disorders / juvenile dystonic lipidosis / psychiatric disorders / severe deficiency / movement disorders / neuroaxonal dystrophy / juvenile Niemann-Pick disease / Epilepsy / dystonia / historical NiemannPick disease / cataplexy / progressive dementia / neurovisceral atypical lysosomal lipid storage disorder / syndrome / disorders / status epilepticus / severe ataxia / adult dystonic lipidosis / vertical supranuclear gaze palsy / / MedicalTreatment counseling / / NaturalFeature Upper Rio Grande valley / / Organization Institut National / Centre de Biologie Est / / Person Nova Scotia Acadian / Marie T Vanier / Ludwig Pick / Albert Niemann / Claude Bernard / / Position author / / ProvinceOrState New Mexico / Nova Scotia / Colorado / / Region Southern Europe / Middle East / southern Colorado / Northern Portugal / / Technology Genotyping / HTML / MRI / PDF / / URL http /
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Orphanet Journal of Rare Diseases This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon. Niemann-Pick disease type