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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Hlavní autoři: Müller, Karen B, Rodrigues, Mayra DB, Pereira, Vanessa G, Martins, Ana M, D'Almeida, Vânia
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2955652/
https://ncbi.nlm.nih.gov/pubmed/20920262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-5-65
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