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Fabry disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (9)Treatment guideline (2)Phase 3 study (19)Systematic review (19)Randomized trial (6)Clinical trial (301)Review article (188)Early study (phase 1 or 2) (4)Case report (159)Laboratory or animal study (24)Commentary or editorial (52)Retracted publication (2) Only studies currently seeking participants (25)

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Publications (1077)

• Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort. (2021/06/19) ♡
• 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. New treatment for myocardial diseases. (2021/06/01) ♡
• Tenosynovial complications identify TTR cardiac amyloidosis among patients with hypertrophic cardiomyopathy phenotype. (2021/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. When Frequent (Pandemic) Occurs in a Non-Frequent Disease: COVID-19 and Fabry Disease: Report of Two Cases. (2021/05/24) ♡
• Expression of ACE2 in the Intact and Acutely Injured Kidney. (2021/05/18) ♡
• Fabry Disease on Peritoneal Dialysis with Cardiac Involvement. (2021/05/15) ♡
• 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. Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. (2021/05/01) ♡
• Characteristics of Vascular Phenotype in Fabry Patients. (2021/05/01) ♡
• Plectin ensures intestinal epithelial integrity and protects colon against colitis. (2021/05/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Invisible burden of COVID-19: enzyme replacement therapy disruptions. (2021/04/05) ♡
• 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 late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report. (2021/04/01) ♡
• Does left ventricular function predict cardiac outcome in Anderson-Fabry disease? (2021/04/01) ♡
• Basal Segmental Longitudinal Strain: A Marker of Subclinical Myocardial Involvement in Anderson-Fabry Disease. (2021/04/01) ♡
• Does oncological outcome differ between restorative and nonrestorative low anterior resection in patients with primary rectal cancer? (2021/04/01) ♡
• Corneal densitometry: a potential indicator for early diagnosis of Fabry disease. (2021/04/01) ♡
• Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. (2021/04/01) ♡
• What influences the outcome of active disinvestment processes in healthcare? A qualitative interview study on five recent cases of active disinvestment. (2021/04/01) ♡
• 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. Nutrition in adult patients with selected lysosomal storage diseases. (2021/03/10) ♡
• Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients. (2021/03/05) ♡
• MRI-visible perivascular spaces as an imaging biomarker in Fabry disease. (2021/03/01) ♡
• Atrial fibrillation and migraine with aura in young adults with ischemic stroke. (2021/03/01) ♡
• Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease. (2021/03/01) ♡
• 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. Current concepts on communication between the central nervous system and peripheral immunity via lymphatics: what roles do lymphatics play in brain and spinal cord disease pathogenesis? (2021/03/01) ♡
• Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss. (2021/03/01) ♡
• 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 classic variant of Fabry disease in a family with the M296I late-onset variant. (2021/02/01) ♡
• A long-term neuropsychological evaluation in Fabry disease. (2021/02/01) ♡
• Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson-Fabry disease. (2021/02/01) ♡
• 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. Proteomics for the study of new biomarkers in Fabry disease: State of the art. (2021/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations. (2021/02/01) ♡
• 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. Pathological entities that may affect the lungs and the myocardium. Evaluation with chest CT and cardiac MR. (2021/02/01) ♡
• 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. [Fabry disease: A review]. (2021/02/01) ♡
• Evidence of evolution towards left midventricular obstruction in severe Anderson-Fabry cardiomyopathy. (2021/02/01) ♡
• 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. Advances in the Management of Small Fiber Neuropathy. (2021/02/01) ♡
• Unexplored regulatory sequences of divergently paired GLA and HNRNPH2 loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter. (2021/02/01) ♡
• Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products. (2021/02/01) ♡
• Galabiosylceramide is present in human cerebrospinal fluid. (2021/01/15) ♡
• Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy. (2021/01/14) ♡
• Computer-assisted retinal vessel diameter evaluation in Fabry disease. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Zebra bodies without Fabry disease or hydroxychloroquine. (2021/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Laminated structures in solitary fibrous tumor cells in a patient with Fabry disease. (2021/01/01) ♡
• Affinity purification of human alpha galactosidase utilizing a novel small molecule biomimetic of alpha-D-galactose. (2021/01/01) ♡
• Assessment of plasma lyso-Gb(3) for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. (2021/01/01) ♡
• Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis. (2021/01/01) ♡
• 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. Fabry disease - current data and therapeutic approaches. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anderson-Fabry disease: No histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy. (2021/01/01) ♡
• Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease. (2021/01/01) ♡
• Tissue Characterization in Cardiology: Moving Beyond Function. (2021/01/01) ♡
• The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. (2020/12/31) ♡
• Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. (2020/12/31) ♡
• 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 Therapy: State-of-the-Art and Current Challenges. (2020/12/28) ♡

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