Results 81 to 90 of about 5,245,219 (176)
Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno +3 more
wiley +1 more source
Cognitive dysfunction and depression in Fabry disease: a systematic review.
, 2014 Background Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders.
David J. Werring +9 more
core +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
Clinical and Experimental Neuroimmunology, Volume 17, Issue 4, November 2026.ABSTRACT Thymoma‐associated myasthenia gravis (TAMG) is frequently refractory, particularly when complicated by myasthenic crisis in advanced invasive disease. Complement C5 inhibitors and neonatal Fc receptor (FcRn) inhibitors have expanded the treatment of acetylcholine receptor (AChR) antibody‐positive generalized myasthenia gravis; however, their ...
Yuta Kizuka +9 more
wiley +1 more source
Fabry Disease: The Current Treatment Landscape
, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The lysosomal accumulation of glycosphingolipids, especially globotriaosylceramide (
Malte Lenders +3 more
core +1 more source
Planar micromachined glass cantilevers utilising integrated Bragg Fabry-Perot cavities
, 2010 Here we demonstrate a glass cantilever based on a unique micromachining and etching approach, combined with UV written Bragg gratings. We shall also discuss the increase in sensitivity by using two Bragg gratings to form Fabry-Pérot cavity.
Carpenter, Lewis +3 more
core +1 more source
Biomarkers in Anderson–Fabry Disease
, 2020 Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of ...
Antonio Pinto +3 more
core +2 more sources
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
cTNI-values in 3 patients with Fabry disease.
, 2014 cTNI-values in 3 patients with Fabry disease.
Arndt Rolfs (140849) +7 more
core +1 more source
Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
Orphanet Journal of Rare DiseasesBackground Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series.
Tzong-Hann Yang +4 more
doaj +1 more source