A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease.

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A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease Takenori Dairaku, Takeo Iwamoto, Minami Nishimura, Masahiro Endo, Toya Ohashi, Yoshikatu Eto Molecular Genetics and Metabolism Volume 111, Issue 2, Pages 193-196 (February 2014) DOI: 10.1016/j.ymgme.2013.11.003 Copyright © 2013 Elsevier Inc. Terms and Conditions

Fig. 1 Excitation spectra (emission wavelength=450nm) of 20nM 4-methylumbelliferone at pH values 4.1 (a), 7.1 (b), 8.4 (c) and 10.1 (d). Molecular Genetics and Metabolism 2014 111, 193-196DOI: (10.1016/j.ymgme.2013.11.003) Copyright © 2013 Elsevier Inc. Terms and Conditions

Fig. 2 Emission spectra at excitation wavelength=365nm (A) and emission spectra at excitation wavelength=320nm (B) of 20nM 4-methylumbelliferone at pH values 4.1 (a), 7.1 (b), 8.4 (c) and 10.1 (d). Molecular Genetics and Metabolism 2014 111, 193-196DOI: (10.1016/j.ymgme.2013.11.003) Copyright © 2013 Elsevier Inc. Terms and Conditions

Fig. 3 Comparison of the LAL activity of 51 normal, 7 obligate carriers and 7 CESD samples. Molecular Genetics and Metabolism 2014 111, 193-196DOI: (10.1016/j.ymgme.2013.11.003) Copyright © 2013 Elsevier Inc. Terms and Conditions