Stéphanie de Bournonville

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Mucopolysaccharidosis type IIIA is a severe degenerative disease caused by an autosomal recessive defect of a gene encoding a lysosomal heparan-N-sulfamidase, the N-sulfoglycosamine sulfohydrolase (SGSH), the catalytic site of which is activated by a sulfatase-modifying factor (SUMF1). Four children (Patients 1-3, aged between 5.5 and 6 years; Patient 4(More)
BACKGROUND Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosomal storage disease resulting in progressive deterioration of cognitive acquisition after age 2-4 years. No treatment is available for the neurological manifestations of the disease. We sought to assess the safety and efficacy of a novel intracerebral(More)
Cognitive impairment has been associated with higher risk of alcoholism and relapse. Recent theoretical refinements have separated inhibition of dominant response and inhibition of proactive interference. We assessed the latter using a directed-forgetting procedure in 38 recently detoxified individuals with alcoholism and in 26 controls. On this task,(More)
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