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Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
BACKGROUND: Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955652/ https://www.ncbi.nlm.nih.gov/pubmed/20920262 http://dx.doi.org/10.1186/1746-1596-5-65 |