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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...

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Detalles Bibliográficos
Autores principales: Müller, Karen B, Rodrigues, Mayra DB, Pereira, Vanessa G, Martins, Ana M, D'Almeida, Vânia
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
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