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Sanfilippo Syndrome: The Tale of a Challenging Diagnosis

Abstract 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. The four types of MPS III are recognized in accordance with the deficie...

Deskribapen osoa

Gorde:
Egile Nagusiak: Giulianna Baldini, José Fernando Palmejiani, João Pedro Bonevechio Sant'Anna, Zumira Aparecida Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Cara O’Neill, Charles M. Lourenco
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2020-10-01
Saila:Journal of Inborn Errors of Metabolism and Screening
Gaiak:
Sanfilippo syndrome
Mucopolysaccharidosis IIIB
heparan sulfate
neurological impairment
cognitive decline
Sarrera elektronikoa:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100503&tlng=en
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