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Aspartylglycosaminuria: a review

Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient’s appearance, cognition, adaptive skills, physical growth, pe...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Arvio, Maria, Mononen, Ilkka
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5134220/
https://ncbi.nlm.nih.gov/pubmed/27906067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0544-6
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