Article
Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper.
Clinical chemistry - 1 Dec 2001
Chamoles N A, Blanco M B, Gaggioli D, Casentini C
Abstract excerpt
BACKGROUND: Clinical differentiation among mucopolysaccharidosis, oligosaccharidosis, and mucolipidosis II and III is difficult. We describe methods for the assay of 8 lysosomal enzymes in dried blood spots on filter paper that allow screening for 12 lysosomal storage diseases that present with a Hurler-like phenotype. METHODS: To test tubes containing 3-mm blood spots, we added elution liquid and fluorescent or...
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