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Fabry disease
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Publications and studies (1331)
- An eye exam leads to the diagnosis of a rare lysosomal storage disorder: Fabry disease. (2022/10/01) ♡
- Balance control impairments in Fabry disease. (2022/09/30) ♡
- Automated urinary sediment detection for Fabry disease using deep-learning algorithms. (2022/09/28) ♡
- 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. Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists. (2022/09/28) ♡
- Dysregulated DNA methylation in the pathogenesis of Fabry disease. (2022/09/26) ♡
- 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. A systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases. (2022/09/19) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease. (2022/09/16) ♡
- Downregulation of Mannose-6-Phosphate Receptors in Fabry Disease Cardiomyopathy: A Potential Target for Enzyme Therapy Enhancement. (2022/09/16) ♡
- The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients. (2022/09/09) ♡
- The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection. (2022/09/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment. (2022/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity. (2022/09/01) ♡
- 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. Cardiac involvement in Fabry disease - A non-invasive assessment and the role of specific therapies. (2022/09/01) ♡
- Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis. (2022/08/30) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease. (2022/08/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiac magnetic resonance diagnosis of Fabry disease leads to incidental diagnosis of Klinefelter syndrome: a case report. (2022/08/22) ♡
- 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 Case of Fabry Disease with Central Retinal Artery Occlusion. (2022/08/15) ♡
- Quality of life in patients with Fabry's disease: a cross-sectional study of 86 adults. (2022/08/01) ♡
- The Effect of Green Tea as an Adjuvant to Enzyme Replacement Therapy on Oxidative Stress in Fabry Disease: A Pilot Study. (2022/07/08) ♡
- COVID-19 in Fabry disease: a reference center prospective study. (2022/06/28) ♡
- Fostering Scientific Innovation to Impact AKI: A Roadmap from ASN's AKINow Basic Science Workgroup. (2022/06/17) ♡
- The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation. (2022/06/01) ♡
- Vascular and structural analyses of retinal and choroidal alterations in Fabry disease: the effect of hyperreflective foci and retinal vascular tortuosity. (2022/06/01) ♡
- Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance. (2022/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Fabry disease and granulomatosis with polyangiitis: just an odd coincidence? (2022/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Cutaneous lesions of Anderson-Fabry disease examined with a novel technique: Line-field confocal optical coherence tomography. (2022/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fabry-Stroke Italian Registry (FSIR): a nationwide, prospective, observational study about incidence and characteristics of Fabry-related stroke in young-adults. Presentation of the study protocol. (2022/04/01) ♡
- 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. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease. (2022/04/01) ♡
- The correlation of small fiber neuropathy with pain intensity and age in patients with Fabry's disease: A cross sectional study within a large Taiwanese family. (2022/04/01) ♡
- 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. Cognitive aspects of MELAS and CARASAL. (2022/03/21) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review. (2022/03/16) ♡
- Ophthalmological findings in a female patient with classical Fabry disease. (2022/03/11) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings. (2022/03/01) ♡
- Fabry cardiomyopathy: what could parametric mapping still unveil? (2022/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY. (2022/03/01) ♡
- Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. (2022/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study. (2022/03/01) ♡
- Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease? (2022/02/08) ♡
- 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 associated with multiple myeloma: a case report. (2022/02/01) ♡
- Burden of Valvular Heart Disease in Patients with Fabry Disease. (2022/02/01) ♡
- Beneficial screening of Fabry disease in patients with hypohidrosis. (2022/02/01) ♡
- Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression. (2022/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Case of a 49-Year-Old Man with Nonclassical Fabry Disease Diagnosed by Renal Biopsy. (2022/01/01) ♡
- 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. Diagnosis and Management of Cardiovascular Involvement in Fabry Disease. (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Autopsy Findings of Heterozygous Fabry Disease with the Severe Phenotype: A Case Report. (2022/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Complete Atrioventricular Block After Kidney Transplantation in a Patient With Fabry Disease Receiving Enzyme Replacement Therapy: A Case Report. (2022/01/01) ♡
- 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. Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications. (2022/01/01) ♡
- Blood Pressure Variability in Fabry Disease Patients. (2022/01/01) ♡
- 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 - a multisystemic disease with gastrointestinal manifestations. (2022/01/01) ♡
- Plasma Lysosphingolipid Biomarker Measurement by Liquid Chromatography Tandem Mass Spectrometry. (2022/01/01) ♡
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