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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multi...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036139/ https://www.ncbi.nlm.nih.gov/pubmed/21637564 http://dx.doi.org/10.1590/S1415-47572010005000093 |