Results 121 to 130 of about 21,730 (244)

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Case Report: Is it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy. [PDF]

Front Pharmacol
Li Y, Zhu H, Zhan Z, Li G, Huang S, Xiao C, Li Y, Zheng C, Huang F.   +8 more
europepmc   +1 more source

Contextual Factors and Intentional Rounding in Acute Hospitals: Understanding What Works, for Whom, in What Settings: A Realist Synthesis

Journal of Clinical Nursing, EarlyView.
ABSTRACT Aim To synthesise published literature to understand how, when and under what circumstances Intentional Rounding in acute hospital settings improves patient safety and make recommendations for implementation in real‐world settings. Background Inpatient falls often result in injury due to complex interactions between the hospital environment ...
Aileen Hetherton, Jan Sorensen, Frances Horgan, Siobhan McCarthy   +3 more
wiley   +1 more source

Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology. [PDF]

Dis Model Mech
Elsaid H, Furriol J, Eikrem Ø, Tøndel C, Svarstad E.   +4 more
europepmc   +1 more source

Beyond the Adult Mind: A Developmental Framework for Predictive Processing in Infancy

Topics in Cognitive Science, EarlyView.
Abstract Predictive Processing has been proposed as the single unifying computation underlying all of cognition, and proponents argue that all psychological phenomena can be explained as consequences of this principle. This theoretical framework has inspired many cognitive scientists and neuroscientists, but it currently has no developmental mechanism ...
Emma K. Ward, Danaja Rutar, Lorijn Zaadnoordijk, Francesco Poli, Sabine Hunnius   +4 more
wiley   +1 more source

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series. [PDF]

Front Med (Lausanne)
Karanfilovski V, Nikolov IG, Dzekova Vidimliski P, Balkanov SK, Severova G, Stojanoska A, Gjorgjievski N.   +6 more
europepmc   +1 more source

A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy. [PDF]

Kidney Med
Oka M, Suzuki R, Akasaka T.
europepmc   +1 more source

Environmental Pesticide Exposure in the Etiology of Pediatric Brain Tumors and Leukemia: A Scoping Review of Epidemiological Studies

International Journal of Cancer, Volume 159, Issue 6, Page 1360-1384, 15 September 2026.
ABSTRACT Pediatric cancer is a significant cause of morbidity and mortality in children. The etiologies of pediatric cancer are largely unknown, but environmental pesticide exposures are likely to contribute. Chronic low‐dose exposure to pesticide mixtures through drinking water is a growing concern in agricultural communities.
Grace N. VanDeSteeg, Alyssa R. Russum, Matthew R. Sandbulte, Eleanor G. Rogan, Martha G. Rhoades   +4 more
wiley   +1 more source

Newborn screening for Fabry disease in Japan: an additional 3-year report. [PDF]

Mol Genet Metab Rep
Sawada T, Kido J, Sugawara K, Yoshida S, Inoue T, Hirose S, Nakamura K.   +6 more
europepmc   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source