Enzyme or protein defect
alpha-Galactosidase A
Accumulates or becomes deficient
Globotriaosylceramide (Gb3)
Key features
Angiokeratomas, acroparaesthesia, hypohidrosis, renal failure, cardiomyopathy, stroke
Management
Enzyme replacement (agalsidase); migalastat
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Regarding: "Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China".
Zhao D, Zhou W. · 2026-07-09
unreviewed -
2
Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China.
Cao ML, Zou JH, Shi MY, Sun YH, Zhao DY, Li L, Jiang HK. · 2026-04-12
open access unreviewed -
3
Prognostic value of peak tricuspid regurgitation velocity in hospitalized patients with heart failure with preserved ejection fraction: an multi-institutional study.
Chang CY, Chen CC, Tsai ML, Hsieh MJ, Lee CH, Chen TH, Chen SW, Chang SH, Chu PH, Hsieh IC, Wen MS, Chen DY. · 2026-04-10
open access unreviewed -
4
Evidence for hippocampal globotriaosylceramide (Gb3) accumulation and spatial memory impairment in a mouse model of Fabry disease.
Salluzzo M, Flotta F, Delprete C, Lazzarotti V, Formaggio F, Vignoli B, Campolongo L, Campana G, Carboni L, C… · 2026-06-30
unreviewed -
5
Newborn screening for Fabry disease in Japan: an additional 3-year report.
Sawada T, Kido J, Sugawara K, Yoshida S, Inoue T, Hirose S, Nakamura K. · 2026-06-11
open access unreviewed -
6
Pathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics.
Wei Z, Yang J, Han Z, Zhang X, Wang B. · 2025-11-25
open access unreviewed -
7
From inactivation to intervention: X chromosome silencing in disease pathogenesis and emerging therapeutic strategies.
Fu Y, Tan X, Qin L, Wang C. · 2025-12-05
open access unreviewed -
8
Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes.
Juchem M, Oehlsen L, Ersoy S, Ye JL, Weber N, Mohr E, Agyapong W, Liu J, Fuchs M, Xiao K, Jahn C, Eggenschwil… · 2026-08-13
unreviewed -
9
Vascular endothelial dysfunction and echocardiographic changes in male and female patients with Fabry disease: a single-center observational study.
Dziedzic R, Kuszmiersz P, Szuścik M, Drynda A, Celińska-Löwenhoff M, Padjas A, Pacholczak-Madej R, Zaręba L, … · 2026-08-12
unreviewed -
10
Cardiac Remodeling Trajectory and Renal Stage-Specific Risk Stratification in East Asian Fabry Disease Patients.
Chen Y, Ouyang Y, Qiu Z, Su X, Chen N, Jin W. · 2026-08-06
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.