← All diseases
Metabolism and endocrine system
Fabry disease
Do you want to receive a message when there is new research about Fabry Disease? This is possible with an account. Create a free account or log in.
Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence
Read in plain language what each study is about? With Premium, above each publication appears one sentence explaining what was investigated — and you receive a notification as soon as there is new research on Fabry disease. View what Premium costs.
Publications and studies (1330)
- Regarding: "Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China". (2026/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Evidence for hippocampal globotriaosylceramide (Gb3) accumulation and spatial memory impairment in a mouse model of Fabry disease. (2026/09/01) ♡
- Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies. (2026/08/06) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pain in Fabry disease: do experimental models reveal novel therapeutic targets? (2026/08/06) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Response to "Comment on 'Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease"'. (2026/08/05) ♡
- Paradoxical Apparent Native T1 Elevation in Triglyceride Deposit Cardiomyovasculopathy: A Pitfall in Contrast With Fabry Disease. (2026/08/04) ♡
- Prevalence and Determinants of Asymmetric Septal Hypertrophy (ASH) in Diseases of Left Ventricular Hypertrophy (LVH). (2026/08/03) ♡
- Myocardial inflammation and scar expansion in patients with Anderson-Fabry disease. (2026/08/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Feasibility and usefulness of personalised patient-reported outcome measures in the therapeutic follow-up of adult spinal muscular atrophy patients. (2026/08/01) ♡
- Targeting fibrosis in the treatment of lower urinary tract dysfunction. (2026/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Beyond Wall Thickness: Phenotype-Guided Diagnosis of Left Ventricular Hypertrophy. (2026/08/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phenotype, genotype and prognosis of apical hypertrophic cardiomyopathies: a French multicentric cohort. (2026/07/31) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Comment on "Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease". (2026/07/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. This ECG Does Not Fit: Rethinking Left Ventricular Hypertrophy. (2026/07/29) ♡
- Neuro-otological findings in fabry disease: prominent oculomotor dysfunction and selective vestibular involvement. (2026/07/27) ♡
- The origin and three-dimensional structure of urinary mulberry bodies in fabry disease. (2026/07/27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX. (2026/07/22) ♡
- Automatic Coregistration of High-Resolution MALDI-MSI and Raman Imaging Applied to Cardiac Tissue of Fabry Disease Mouse Models. (2026/07/21) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation. (2026/07/20) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. (2026/07/19) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Fabry disease cardiomyopathy: Time for a closer heart rhythm monitoring? (2026/07/16) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review. (2026/07/16) ♡
- Genotype analysis of Fabry disease in a Spanish at-risk population reveals 10 novel GLA variants. (2026/07/14) ♡
- Amyloid-beta is present in the spinal cord of APP/PS1 mice and may contribute to neuropathology manifesting as lower urinary tract dysfunction. (2026/07/13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases. (2026/07/12) ♡
- ECG parameters to detect cardiac involvement in Fabry disease. (2026/07/11) ♡
- Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A). (2026/07/11) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Expert opinion on the conceptual, clinical and therapeutic aspects of Fabry nephropathy: A nephrologists' perspective. (2026/07/10) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment. (2026/07/09) ♡
- Cribriform plate microenvironment assembles a suppressive myeloid network during EAE-induced neuroinflammation. (2026/07/08) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Reno-ocular syndromes: pathophysiological mechanisms linking kidney and ocular disorders. (2026/07/08) ♡
- Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease. (2026/07/07) ♡
- VCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease. (2026/07/06) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. (2026/07/03) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Multi-Modal, Machine Learning-Driven Framework Integrating Multi-Omics for Personalized Chronic Kidney Disease Management. (2026/07/03) ♡
- Reply to Dr. Finsterer's Letter on 'Unexpected Hypotension in a Female Patient with Fabry Disease'. (2026/07/01) ♡
- Agalsidase-A for Fabry's Disease Can Be Made Responsible for Hypotension Only after Sufficient Exclusion of Alternative Causes. (2026/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. AAV9/hGLA gene therapy reduces podocyte GL-3 accumulation in a Fabry disease mouse model. (2026/07/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Adjuvant chemoradiotherapy versus completion total mesorectal excision after local excision for early rectal cancer (TESAR): a multicentre, randomised, controlled, phase 3, non-inferiority trial. (2026/07/01) ♡
- Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients. (2026/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Unusual Etiology of Bayés' Syndrome: Fabry Disease. (2026/07/01) ♡
- Could Fabry Disease Cause Giant Coronary Aneurysms in a 7-Month-Old Infant: A Case Report. (2026/07/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Population Pharmacokinetic Modeling for the Iminosugar Lucerastat Supports Dose Adaptation in Patients With Fabry Disease and Moderate to Severe Renal Function Impairment. (2026/07/01) ♡
- Mitochondrial stress markers associate with phenotypic variability in Fabry disease. (2026/06/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late diagnosis of late onset Fabry disease. (2026/06/29) ♡
- Perception and knowledge of Fabry disease: a comparative survey of patients and medical professionals in South Korea. (2026/06/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rapid Progression of Coronary Disease in Fabry Disease: Vulnerable Plaque by Intravascular Ultrasound. (2026/06/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Renal involvement in Fabry disease from Tunisian families: Six case reports. (2026/06/25) ♡
- From 'Pseudo-Fabry' to true hypertrophic cardiomyopathy: a case of artefactual T1 reduction due to contrast contamination. (2026/06/24) ♡
- Differential COVID-19 Outcomes Across Lysosomal Disorders. (2026/06/24) ♡
codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.