Results 111 to 120 of about 2,747,391 (374)
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
doaj +1 more source
Enzyme economy and metabolic control [PDF]
arXiv, 2014 The metabolic state of a cell, comprising fluxes, metabolite concentrations and enzyme levels, is shaped by a compromise between metabolic benefit and enzyme cost. This hypothesis and its consequences can be studied by computational models and using a theory of metabolic value.
arxiv
A system-wide network reconstruction of gene regulation and metabolism in Escherichia coli [PDF]
, 2018 Genome-scale metabolic models have become a fundamental tool for examining metabolic principles. However, metabolism is not solely characterized by the underlying biochemical reactions and catalyzing enzymes, but also affected by regulatory events. Since the pioneering work of Covert and co-workers as well as Shlomi and co-workers it is debated, how ...
arxiv +1 more source
New Developments in Screening for Inborn Errors of Metabolism [PDF]
, 1971 I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core +1 more source
Berries: Health Effects via Modulation of the Gut Microbiota
Food Frontiers, EarlyView.ABSTRACT Berries are widely regarded as beneficial foods, rich in polyphenols, flavonoids, and other bioactive compounds that could positively influence human health. Although the gut microbiota plays a crucial role in metabolism and physiology of humans, the interaction between berries and human gut microbiota activity remains unclear.
Manjin Xu +11 more
wiley +1 more source
Frontiers in Immunology, 2019 Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez +15 more
doaj +1 more source
Glia, EarlyView.CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease. ABSTRACT COASY protein‐associated neurodegeneration (CoPAN) is a rare autosomal recessive disorder within the ...
Anna Cozzi +8 more
wiley +1 more source
Astroglial CB1 Reveal Sex‐Specific Synaptic Effects of Amphetamine
Glia, EarlyView.Astroglial CB1R mediates long‐term synaptic plasticity (LTD) in the Nucleus accumbens. Amphetamine saturates adenosine receptors and blocks LTD in males, but not females. Locomotor effects of amphetamine require astroglial CB1R in males, but not in females.
Yamuna Mariani +15 more
wiley +1 more source
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Heliyon, 2019 Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona +8 more
doaj
Healthcare Quality by Specialists Under a Mixed Compensation System: An Empirical Analysis
Health Economics, Volume 34, Issue 5, Page 972-991, May 2025.ABSTRACT We analyze the effects of a mixed compensation (MC) scheme for specialists on the quality of their healthcare services. We exploit a reform implemented in Quebec (Canada) in 1999. The government introduced a payment mechanism combining a per diem with a reduced fee per clinical service.
Damien Echevin +2 more
wiley +1 more source