9 research outputs found
Validation data of lysosphingolipids measurement in plasma.
<p>Validation data of lysosphingolipids measurement in plasma.</p
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
Chromatogram of lysosphingolipids standard solutions and internal standards (IS) in positive mode, standard concentrations, calibration curves, correlation coefficient (R<sup>2</sup>) and relative standard deviation (RSD) of the calibration points.
<p>1: LysoSM d17 (IS); 2: GlyLysoGb<sub>3</sub> (IS); 3: LysoGb<sub>3</sub>; 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 (R<sup>2</sup>) 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
Additional file 1: Figure S1. of Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Frequency of positive BH4-loading test is higher in mildest PKU phenotypes. Error bars represent the 95 % confidence intervals. Fisher exact test, ***p ≤ 0.001, **p ≤ 0.01, *p ≤ 0.05. (TIF 32 kb