Navegação por Assunto "Mucopolissacaridose III"
Resultados 1-4 de 4
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An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
(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 ... -
Development of a clinical algorithm for the early diagnosis of mucopolysaccharidosis III
(2020) [Artigo de periódico]Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to ... -
Sanfilippo syndrome : consensus guidelines for clinical care
(2022) [Artigo de periódico]Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological ... -
Sanfilippo syndrome : the tale of a challenging diagnosis
(2020) [Artigo de periódico]Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. ...