Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate. To achieve optimal clinical outcomes, early and proper treatment is essential, which...

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Detalles Bibliográficos
Autores principales: Ou, Li, Przybilla, Michael J., Whitley, Chester B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496269/
https://www.ncbi.nlm.nih.gov/pubmed/28676128
http://dx.doi.org/10.1186/s13023-017-0678-1

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