Massive Newborn Screening Effort in China Reveals Hidden Burden of Primary Carnitine Deficiency
A ten-year newborn screening program in Yancheng, China, identified 17 infants with primary carnitine deficiency and showed that SLC22A5 genetic ...
Tag: tandem mass spectrometry
Dietary Glycation Products Pile Up Unevenly Across Aging Organs, Mouse Study Shows
Targeted mass spectrometry in aged mice reveals that dietary carboxymethyllysine accumulates selectively in the kidney and ileum while blood markers ...
Hidden Metabolic Diseases Found in Unexplained Child Deaths Through Blood Spot and DNA Analysis
A retrospective Chinese cohort study combined tandem mass spectrometry of archived newborn blood spots with whole-exome sequencing to uncover previously ...
New Modification-Aware Search Tool Uncovers Hidden Modified Peptides in Proteomics Data
A new computational framework called POMS improves open spectral library searching by accounting for modification-induced fragment-ion shifts, boosting modified peptide ...
Faster Amyloidosis Typing with High-Flow Mass Spectrometry Reaches the Clinic
A new high-flow mass spectrometry workflow combining suspension trapping and data-independent acquisition types amyloid deposits in under eight hours with ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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