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Fabry disease
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Publications and studies (1331)
- Systems analyses of the Fabry kidney transcriptome and its response to enzyme replacement therapy identified and cross-validated enzyme replacement therapy-resistant targets amenable to drug repurposing. (2023/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [A child of Fabry disease with appendicitis as initial symptom and family screening]. (2023/10/01) ♡
- Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study. (2023/10/01) ♡
- Characterization of pre-existing anti-PEG and anti-AGAL antibodies towards PRX-102 in patients with Fabry disease. (2023/09/22) ♡
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women. (2023/09/15) ♡
- Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients. (2023/09/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease. (2023/09/14) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease. (2023/09/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unexplained Left Ventricular Hypertrophy Diagnosed as a Cardiac Variant of Late-Onset Fabry Disease: A Case Report. (2023/09/10) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Author Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. (2023/09/05) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Editors' Note: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. (2023/09/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis. (2023/09/05) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla(-/-) zebrafish model of Fabry disease. (2023/09/05) ♡
- Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease. (2023/09/05) ♡
- [Recent advances in the diagnosis and treatment of Fabry disease]. (2023/09/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet? (2023/09/01) ♡
- Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. (2023/09/01) ♡
- Pain in Fabry Disease: Could Spinal Cord Stimulation be a Solution? (2023/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spastic quadriparesis in Fabry disease: A diagnostic challenge. (2023/09/01) ♡
- The Relationship between Serum TWEAK Levels and Carotid Intima-media Thickness in Patients with Fabry Disease. (2023/09/01) ♡
- Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family. (2023/08/31) ♡
- Prevalence of papillary muscle hypertrophy in fabry disease. (2023/08/27) ♡
- 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. Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement. (2023/08/26) ♡
- Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy. (2023/08/19) ♡
- A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry. (2023/08/18) ♡
- 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. Treatment of Fabry Nephropathy: A Literature Review. (2023/08/17) ♡
- 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. Immune cells as messengers from the CNS to the periphery: the role of the meningeal lymphatic system in immune cell migration from the CNS. (2023/08/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report]. (2023/08/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry Disease Presenting as End-Stage Kidney Disease. (2023/08/16) ♡
- 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. Pharmacological Nephroprotection in Non-Diabetic Chronic Kidney Disease-Clinical Practice Position Statement of the Polish Society of Nephrology. (2023/08/09) ♡
- 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. Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification. (2023/08/07) ♡
- Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease. (2023/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Impaired ACE2 glycosylation and protease activity in Fabry disease protects from COVID-19. (2023/08/01) ♡
- Novel Golden Lipid Nanoparticles with Small Interference Ribonucleic Acid for Substrate Reduction Therapy in Fabry Disease. (2023/07/12) ♡
- 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. Kidney Podocyte Zebra Bodies after Lung Transplantation for Lymphangioleiomyomatosis. (2023/07/01) ♡
- Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. (2023/07/01) ♡
- Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community. (2023/07/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. A Vitamin C Renal Leak in Fabry Disease: The Rare Informs the Common. (2023/07/01) ♡
- Clinical and CMR characteristics associated with cardiac events in patients with Fabry disease. (2023/07/01) ♡
- Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak. (2023/07/01) ♡
- 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. An expert consensus on the recommendations for the use of biomarkers in Fabry disease. (2023/06/01) ♡
- What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening? (2023/06/01) ♡
- Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy. (2023/05/31) ♡
- Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease. (2023/05/19) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early onset of nephrogenic diabetes insipidus due to fabry disease in a child with GLA N215S mutation: Case report and literature review. (2023/05/06) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Monitoring of anti-drug antibodies and disease-specific biomarkers in three patients from a Japanese Fabry family treated with enzyme replacement therapy. (2023/05/01) ♡
- COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. (2023/05/01) ♡
- 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. How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years. (2023/04/01) ♡
- 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. Screening for Fabry disease in a series of Parkinson's disease patients and literature review. (2023/04/01) ♡
- Relationship of Vessel Density to Vessel Length Density in Patients with Treated Fabry Disease. (2023/03/24) ♡
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