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Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

Abstract 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 introduce appropriate management measures and to optimize therapeutic o...

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Principais autores: Maria Escolar, Jessica Bradshaw, Valerie Tharp Byers, Roberto Giugliani, Lynn Golightly, Charles Marques Lourenço, Kimberly McDonald, Nicole Muschol, Imogen Newsom-Davis, Cara O’Neill, Holly L. Peay, Jennifer Siedman, Martha L. Solano, Tessa Wirt, Tim Wood, Lonnie Zwaigenbaum
Formato: Artigo
Idioma:Inglês
Publicado em: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2020-06-01
coleção:Journal of Inborn Errors of Metabolism and Screening
Assuntos:
Mucopolysaccharidosis III
Sanfilippo syndrome
signs
symptoms
diagnostic algorithm
Acesso em linha:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en
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