Concepedia

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

Gabriel Civallero, Kristiane Michelin, J. De Mari, Marli Viapiana, Maira Graeff Burin, Janice Carneiro Coelho, Roberto Giugliani

Clinica Chimica Acta · 2006 · 120 citations · 15 references

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Concepts

References

15

Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Yijun Li, C. Ronald Scott, Néstor Chamoles et al. · Clinical Chemistry · 2004 · 333 citations · Full text

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Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate

Stephen P. Peters, Patrick Coyle, Robert H. Glew · Archives of Biochemistry and Biophysics · 1976 · 198 citations

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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

Ya. V. Voznyi, J. L. M. Keulemans, O. P. van Diggelen · Journal of Inherited Metabolic Disease · 2001 · 194 citations

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A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

Peter G. Pentchev, Andrew E. Gal, A. D. Booth et al. · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · 1980 · 186 citations

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Hurler-like Phenotype

Néstor Chamoles, Mariana Blanco, Daniela Gaggioli et al. · Clinical Chemistry · 2001 · 139 citations · Full text

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