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 · fetched just now · sorted by publication date
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1
Nomograms for the lower normal limits of epidermal nerve fibers number and their morphological alterations according to age and sex.
Kokotis P. · 2026-09-10
open access unreviewed -
2
Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.
Guo W, Bi J, Ji P, Xie Y. · 2026-08-13
open access unreviewed -
3
Regarding: "Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China".
Zhao D, Zhou W. · 2026-07-09
open access unreviewed -
4
Corneal nerve regeneration: treatments and monitoring approaches.
Reddy K, Mian SI. · 2026-06-25
open access unreviewed -
5
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
cited 1× open access unreviewed -
6
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 -
7
Pain in Fabry disease: do experimental models reveal novel therapeutic targets?
Galimberti G, Riboldi B, Amodeo G, Franchi S, Braganti C, Sacerdote P, Ceruti S. · 2026-08-06
unreviewed -
8
Pediatric Fabry disease revealed by early neuropathic symptoms: a case report
· 2026-10-01
open access unreviewed -
9
Metabolomic biomarkers and metabolic remodelling in genetically characterised hypertrophic cardiomyopathy: a systematic review.
Ahmad Razmy AH, Abd Latip N, Ab-Rahim S, Sheikh Abdul Kadir SH. · 2026-10-03
open access unreviewed -
10
Beyond the Index Case: A Practical Framework for Cascade Family Screening in Hereditary Angioedema.
Leung GK, Kan AK, Li PH. · 2026-10-01
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.