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From hypertransaminasemia to mucopolysaccharidosis IIIA

ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subt...

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Detalles Bibliográficos
Autores principales:	Krawiec, Paulina, Pac-Kożuchowska, Elżbieta, Mełges, Beata, Mroczkowska-Juchkiewicz, Agnieszka, Skomra, Stanisław, Pawłowska-Kamieniak, Agnieszka, Kominek, Katarzyna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260237/ https://www.ncbi.nlm.nih.gov/pubmed/25439061 http://dx.doi.org/10.1186/s13052-014-0097-z

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