Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Blood Focused-Metabolomics and Transcriptomics Uncover Non-Linear Risk Association of Inadequate Dietary Choline Intake-Linked Metabolic Stress with MASLD Through Amino Acid Biomarkers, <i>BCAA</i> and <i>MTORC 1</i>/<i>AKT1</i>/<i>IRS1</i> Mechanistic Mediators: A Nested Case-Control Study. [PDF]
Wu CH +11 more
europepmc +1 more source
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
Demoralization and Associated Factors in Palliative Oncology Outpatients: A Cross-Sectional Study. [PDF]
Ljuslin M +12 more
europepmc +1 more source
The psychological adjustment of siblings of children with disabilities: the role of school factors
Leach, Francesca
core
Association of physical fitness and overweight with mental and behavioural diagnoses in a population-based cohort of 156 202 young men. [PDF]
Tenkanen T +9 more
europepmc +1 more source
Comorbidity severity adjusted model for predicting mortality in hospitalized patients with COPD. [PDF]
Seo JH, Lim JH.
europepmc +1 more source
Growth Differentiation Factor-15 as a Biomarker of Diabetic Complications in Patients with Type 2 Diabetes. [PDF]
Nikolova D +4 more
europepmc +1 more source
Psychiatric morbidity following liothyronine exposure in autoimmune hypothyroidism: a Swedish nationwide cohort study. [PDF]
Hedberg F +6 more
europepmc +1 more source

