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Scriver, C.R., Beaudet, A.L., Sly, W. S. and Valle, D. (2001) Metabolic and molecular basis of inherited diseases. 8th Edition, McGraw Hill, New York.

has been cited by the following article:

• TITLE: Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

  AUTHORS: Romina Ceci, Pablo N. de Francesco, Juan M. Mucci, Lorena N. Cancelarich, Carlos A. Fossati, Paula A. Rozenfeld

  KEYWORDS: Lysosomal Storage Disorders; Diagnosis; Dried Blood Spots; Sensitivity; Enzymatic Activity; Reliability

  JOURNAL NAME: Advances in Biological Chemistry, Vol.1 No.3, November 7, 2011

  ABSTRACT: Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Ob-jectives: We aimed to analyze the usefulness of DBS samples for diagnosis of 4 LSDs, with the availability of a large quantity of patient samples. Design and methods: Blood samples from previously diagnosed patients with Fabry, Gaucher, Hunter, and Maro-teaux-Lamy syndromes and normal control individ-uals, were collected and dispen-sed in filter paper, and used for enzymatic activity determination. Results: Diagnosis of hemi/homo-zygous patients with Fabry, Hunter and Maroteaux-Lamy diseases using DBS samples showed ideal parameters of 100% sensitivity and specificity. DBS assay for Gaucher disease would need a posterior confirmatory step. Conclusions: Leukocyte measu-rement is the only reliable way to diagnose Gaucher disease. For Hunter, Fabry and Maroteaux-Lamy disorders discrimination between patients and controls seems adequate by DBS.