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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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| Publicat a: | Ital J Pediatr |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2014
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| Matèries: | |
| Accés en línia: | 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 |
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