Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease [PDF]
Frontiers in Pediatrics, 2023 ObjectiveThis article analyzes the data of four families with mutations of the GLA (galactosidase) gene with a special focus on the clinical presentation, diagnosis, and interdisciplinary clinical management of Fabry disease (FD) and enzyme replacement ...
Peng Gou +3 more
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Cardiovascular Involvement in Fabry’s Disease: New Advances in Diagnostic Strategies, Outcome Prediction and Management [PDF]
Cardiac Failure Review, 2023 Cardiovascular involvement is common in Fabry’s disease and is the leading cause of morbidity and mortality. The research is focused on identifying diagnostic clues suggestive of cardiovascular involvement in the preclinical stage of the disease through ...
Emanuele Monda +11 more
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Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach [PDF]
Life, 2022 (1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants.
Marco Angelo Monte +7 more
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Screening for Fabry’s disease in a high-risk subpopulation of FMF [PDF]
European Journal of Medical Research, 2022 Background Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with mutations in the Mediterranean fever gene (MEFV) that manifests with recurrent episodes of febrile serositis.
Tomer Maller +3 more
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Indian Journal of Paediatric Dermatology, 2020 Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur +3 more
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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 [PDF]
Biomedical Journal, 2022 Background: The relationships among small fiber neuropathy, age, sex and pain intensity in the context of Fabry's disease remain unclear. We aim to study the correlations of small fiber neuropathy, age, sex and pain intensity in Fabry patients.
Ming-Feng Liao +7 more
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Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry’s disease [PDF]
Frontiers in Cardiovascular MedicineIntroductionFabry's disease is an X-linked lysosomal storage disorder caused by reduced activity of α-galactosidase A (GAL), leading to premature death on account of renal, cardiac, and vascular organ failure.
N. Lund +16 more
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Global research on Fabry's disease: Demands for a rare disease [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death.
Doris Klingelhöfer +5 more
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Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry’s Disease [PDF]
Brain Sciences, 2020 Background: Patients with Fabry’s disease (FD) may be asymptomatic or show a spectrum of clinical manifestations, including cerebrovascular disease, mainly affecting posterior circulation. Few and conflicting studies on cerebral blood flow (CBF) velocity
Carla Vagli +8 more
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Dysregulated autophagy contributes to podocyte damage in Fabry's disease. [PDF]
PLoS ONE, 2013 Fabry's disease results from an inborn error of glycosphingolipid metabolism that is due to deficiency of the lysosomal hydrolase α-galactosidase A. This X-linked defect results in the accumulation of enzyme substrates with terminally α-glycosidically ...
Max C Liebau +11 more
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