A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Krawiec, Paulina, Pac-Kożuchowska, Elżbieta, Mełges, Beata, Mroczkowska-Juchkiewicz, Agnieszka, Skomra, Stanisław, Pawłowska-Kamieniak, Agnieszka, Kominek, Katarzyna
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4260237/
https://ncbi.nlm.nih.gov/pubmed/25439061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-014-0097-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!