Navegação por Autor "Olivier, Sophie"
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An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg, Frits; Aiach, Karen; Chakrapani, Anupam; Eisengart, Julie B.; Giugliani, Roberto; Héron, Benedicte; Muschol, Nicole; O’Neill, Cara; Olivier, Sophie; Parker, Samantha (2022) [Artigo de periódico]Mucopolysaccharidosis type IIIA (MPS IIIA, also known as Sanfilippo syndrome) is a rare genetic lysosomal storage disease characterized by early and progressive neurodegeneration resulting in a rapid decline in cognitive ...