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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

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Assessment of neurological and behavioural function: the NIH Toolbox

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Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

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Randomized, controlled trial of miglustat in Gaucher's disease type 3

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Cognitive Outcome in Treated Patients with Chronic Neuronopathic Gaucher Disease

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