RT @sulaimanalriyam: Hesse et al demonstrated the reliability of using palmitoyl-CoA oxidation enzyme activity in lymphocytes as confirmato…
RT @JIMD_Editors: Staying with newborn screening, Hesse et al discuss: The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase d…
@DrIsidroVitoria @AGarciaCazorla @Inmaggenet @aepediatria @seghnp @jramonfernandez
RT @JIMD_Editors: Staying with newborn screening, Hesse et al discuss: The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase d…
RT @JIMD_Editors: Staying with newborn screening, Hesse et al discuss: The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase d…
RT @JIMD_Editors: Staying with newborn screening, Hesse et al discuss: The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase d…
RT @sulaimanalriyam: Hesse et al demonstrated the reliability of using palmitoyl-CoA oxidation enzyme activity in lymphocytes as confirmato…
Hesse et al demonstrated the reliability of using palmitoyl-CoA oxidation enzyme activity in lymphocytes as confirmatory test for VLCAD, and suggested that enzyme activity of <24% confirms VLCAD.
Staying with newborn screening, Hesse et al discuss: The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD) https://t.co/8E0VJS7GTT they show the outcome of enzyme testing as a confirmatory tool and correlation with molecula
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency. ✏️VLCAD欠損症における診断上の課題。VLCADの欠損によりMCADが活性化されるのは面白い。 https://t.co/e6tmHRkUjH