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Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit...

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Autors principals: Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki-Szymańska, Anna
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3654162/
https://ncbi.nlm.nih.gov/pubmed/23336697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/apa.12169
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