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

Internet

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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