Results 21 to 30 of about 2,687 (100)
Evaluation of a Targeted LC–MS/MS Assay for Clinical Quantification of Urinary Organic Acids
Journal of Mass Spectrometry, Volume 61, Issue 8, August 2026.ABSTRACT Gas chromatography–mass spectrometry (GC–MS) is the reference method for urine organic acid analysis but requires complex sample preparation and derivatization, limiting routine clinical use. We developed and validated a targeted Liquid chromatography–tandem mass spectrometry (LC–MS/MS) method for quantifying urinary organic acids relevant to ...
Earnest J. P. Daniel +3 more
wiley +1 more source
Magnetic Resonance in Medicine, Volume 96, Issue 2, Page 557-567, August 2026.ABSTRACT Purpose Congenital heart disease affects 1% of US births, with some infants requiring cardiothoracic surgery under cardiopulmonary bypass (CPB). Optimal surgical parameters to minimize neuronal injury are unknown. We used serial 1H MRS in a neonatal CPB porcine model to assess acute neuronal damage and associated injury mechanisms.
Aaron Omon +5 more
wiley +1 more source
DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate‐Dependent Activation
The FASEB Journal, Volume 40, Issue 14, 31 July 2026.Substrate‐induced activation of PAH by L‐Phe involves dimerization of its regulatory domains (RD), with L‐Phe binding in the dimeric RD interface. The J‐domain protein DNAJC12 binds this activated conformation, stabilizing PAH and delaying aggregation, while reducing the substrate concentration required for activation.
Mary Dayne S. Tai +7 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman +8 more
wiley +1 more source
Cancer Nexus, Volume 2, Issue 3, July 2026.ABSTRACT Inflammatory bowel disease (IBD), primarily Crohn's disease and ulcerative colitis, is a chronic relapsing inflammatory disorder of the gastrointestinal tract and an important risk factor for IBD‐associated cancer. Increasing evidence suggests that gut microbiota dysbiosis, epithelial barrier dysfunction, and immune microenvironment remodeling
Xue Zhang +4 more
wiley +1 more source
Immune Dysregulation in Branched Chain Organic Acidemias
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi +3 more
wiley +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives
MedComm, Volume 7, Issue 7, July 2026.Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang +9 more
wiley +1 more source
Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management
MedComm, Volume 7, Issue 7, July 2026.Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu +8 more
wiley +1 more source