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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Müller, Karen B, Rodrigues, Mayra DB, Pereira, Vanessa G, Martins, Ana M, D'Almeida, Vânia
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2010
Gaiak:
Research
Sarrera elektronikoa: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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