Publications by authors named "M T Mulder"
The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand to include IMDs that lack a reliable biochemical footprint in dried blood spots, while also reducing secondary findings. To be eligible for inclusion in NBS, an IMD needs to fulfill the Wilson and Jungner criteria, with treatability being one of the most important criteria.
View Article and Find Full Text PDFThis report describes a rare case of lipoprotein glomerulopathy. A 63 year-old man presented with nephrotic syndrome unresponsive to rituximab and tacrolimus. Blood tests showed a mild- to moderate hypertriglyceridemia suggesting familial dysbetalipoproteinemia (FD).
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- The study investigates CP symmetry violation in the decay of D^{+} particles into K^{-}K^{+}π^{+} using data from proton-proton collisions at a high energy of 13 TeV.
- A unique model-independent method was employed to analyze the phase-space distributions of D^{+} and D^{-} particles, correcting for any instrumental biases using D_{s}^{+} decays.
- The findings indicate no significant evidence of CP violation, with a p value of 8.1%, and measure specific CP asymmetry observables, marking this study as the most sensitive search of its kind in multibody decays.
Unlabelled: Atrial fibrillation (AF) is a prevalent and clinically significant cardiac arrhythmia, with a growing incidence. The primary objectives in AF management are symptom relief, stroke risk reduction, and prevention of tachycardia-induced cardiomyopathy. Two key strategies for rhythm control include antiarrhythmic drug therapy and pulmonary vein isolation (PVI), with PVI being recommended for selected patients.
View Article and Find Full Text PDFChannelrhodopsins, light-gated cation channels, enable precise control of neural cell depolarization or hyperpolarization with light in the field of optogenetics. This study integrates time-resolved serial crystallography and atomistic molecular dynamics (MD) simulations to resolve the structural changes during C1C2 channelrhodopsin activation. Our observations reveal that within the crystal environment, C1C2 predominantly remains in a light-activated state with characteristics of the M intermediate.
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