Lysosphingolipids concentrations (nmol/L) in plasma from controls, sphingolipidoses, Niemann-Pick type C disease and other inborn error of metabolism.

<p>Statistical significance is indicated as follows: * <i>p</i> < 0.05; ** <i>p</i> < 0.01; *** <i>p</i> < 0.001. LALD: Lysosomal Acid Lipase Deficiency; LSDs: lysosomal storage diseases.</p

Validation data of lysosphingolipids measurement in plasma.

<p>Validation data of lysosphingolipids measurement in plasma.</p

Chromatogram of lysosphingolipids standard solutions and internal standards (IS) in positive mode, standard concentrations, calibration curves, correlation coefficient (R²) and relative standard deviation (RSD) of the calibration points.

<p>1: LysoSM d17 (IS); 2: GlyLysoGb₃ (IS); 3: LysoGb₃; 4: LysoSM; 5: LysoGlcCer; 6: LysoGlcCer d5 (IS).</p

Lysohexosylceramide (LysoHexCer) data in amniotic fluid (AF) supernatant from non-immune hydrops fetalis (NIHF) pregnancies including Gaucher disease, and controls.

<p>*** <i>p</i> < 0.001.</p

Lysosphingolipids concentrations (nmol/L) in amniotic fluid (AF) supernatant from non-immune hydrops fetalis (NIHF) pregnancies (including Gaucher disease), and controls.

<p>Lysosphingolipids concentrations (nmol/L) in amniotic fluid (AF) supernatant from non-immune hydrops fetalis (NIHF) pregnancies (including Gaucher disease), and controls.</p

Chromatogram of lysosphingolipids standard solution and internal standard (IS) in negative mode, standard concentrations, calibration curve, correlation coefficient (R²) and relative standard deviation (RSD) of the calibration points.

<p>1: LysoGM1; 2: S1P d17 (IS).</p

Lysosphingolipids datas in plasma (nmol/L) from controls, sphingolipidoses, Niemann-Pick C disease and other inborn errors of metabolism.

<p>Lysosphingolipids datas in plasma (nmol/L) from controls, sphingolipidoses, Niemann-Pick C disease and other inborn errors of metabolism.</p

MS/MS parameters for quantification of lysosphingolipids and their corresponding internal standard (IS).

<p>MS/MS parameters for quantification of lysosphingolipids and their corresponding internal standard (IS).</p

Inter-assay % Bias and precision (% CV) of lyso-Gb₃ quality control mouse tissue samples.

<p>Quality control samples were prepared in wild-type mouse plasma or tissue homogenates at four concentration levels and analyzed on three separate days. Six to 10 replicates at each concentration level were used for inter-assay determination. Conc., concentration; SD, Standard Deviation.</p

Recovery of lyso-Gb₃ from plasma and tissue homogenates.

<p>Recovery samples were prepared in normal human plasma, and wild-type mouse tissue homogenates or plasma at three concentration levels and analyzed in quintuplicates (n = 5). % recovery (mean) = 100×(mean peak area of extracted lyso-Gb₃/mean peak area of unextracted lyso-Gb₃).</p