Results 71 to 80 of about 11,284 (188)
Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra +4 more
wiley +1 more source
When ‘Liver Enzymes’ Are Not Hepatic: Late‐Onset Pompe Disease
Medical Journal of Australia, Volume 224, Issue 6, June 2026.ABSTRACT Elevated liver function tests are commonly attributed to hepatic disease but may reflect extrahepatic pathology. We describe the case of an 18‐year‐old athletic woman with a 2‐year history of elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels, initially investigated extensively for hepatic
Shauna Madigan +2 more
wiley +1 more source
Recent Developments in Deep‐Ultraviolet Flat Optics
Nanophotonics, Volume 15, Issue 10, 27 May 2026.Deep‐ultraviolet flat optics (DUVFO) is emerging as a key platform for next‐generation photonics, enabling advanced functionalities beyond conventional DUV optics. This review outlines materials, devices, and system advances, highlighting wide‐bandgap platforms, while identifying key challenges in dispersion control, characterization, and wafer‐scale ...
Omar A. M. Abdelraouf +2 more
wiley +1 more source
Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease
Stem Cell ResearchFabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li +7 more
doaj +1 more source
Molecular Genetics and Metabolism ReportsThe challenges encountered by women living with Fabry disease in Japan are not well understood. This study aimed to elucidate the experiences of women with Fabry disease and their support networks from both female and male perspectives.
Masahisa Kobayashi +4 more
doaj +1 more source
PLoS ONEBackgroundRare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women.
Philipp Hahn +6 more
doaj +1 more source
BiomedicinesBackground: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour ...
Dominique P. Germain +6 more
doaj +1 more source
BiomedicinesBackground/Objectives: Fabry disease is an X-linked lysosomal storage disease. Earlier studies have mentioned dizziness/balance issues and vestibular involvement as a symptom of Fabry disease. Research on the matter remains scarce. This pilot study aims to show the prevalence of dizziness/balance issues and whether it is due to peripheral, central, or ...
Aslak Broby Johansen +2 more
openaire +4 more sources
Molecular Genetics and Metabolism ReportsFabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be ...
Hiroshi Kobayashi +4 more
doaj +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2016 Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj +1 more source