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A case report of Sanfilippo syndrome – the long way to diagnosis

BACKGROUND: Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is characterized by early nonspecific neuropsychiatric symptoms, followed...

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Detalles Bibliográficos
Autores principales:	Lorenz, Delia, Musacchio, Thomas, Kunstmann, Erdmute, Grauer, Eva, Pluta, Natalie, Stock, Annika, Speer, Christian P., Hebestreit, Helge
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922843/ https://www.ncbi.nlm.nih.gov/pubmed/35291973 http://dx.doi.org/10.1186/s12883-022-02611-7

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