Results 11 to 20 of about 4,907,795 (224)
Revista de la Facultad de Medicina Humana, 2018 Fabry disease is a lysosomal storage disease caused by alpha galactosidase A enzyme deficiency. The pattern of inheritance is X-linked. The clinical presentation has a variety of symptoms and signs; and a classic clinical variant and non-classical ...
Martín Gómez Luján
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Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease [PDF]
Renal FailureFabry disease is an X-linked hereditary lysosomal storage disease caused by variants in the GLA gene. These variants result in reduced or absent α-galactosidase A (α-Gal A) enzyme activity, leading to the progressive accumulation of enzyme metabolism ...
Wenkai Guo +3 more
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Orphanet Journal of Rare Diseases, 2010 Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
Germain Dominique P
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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. [PDF]
PLoS ONE, 2016 Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has ...
Bianca T A de Greef +7 more
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An Unusual Etiology of Bayés' Syndrome: Fabry Disease [PDF]
Annals of Noninvasive ElectrocardiologyWe present the case of a 72‐year‐old female with Fabry disease who developed an advanced interatrial conduction block and atrial fibrillation, a condition known as Bayés' syndrome.
Nicholas E. Kunce +3 more
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A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy [PDF]
Kidney MedicineThe present case documents a 17-year-old woman patient with nephrotic syndrome who was diagnosed with Fabry disease complicated by idiopathic multicentric Castleman disease (iMCD) and membranous nephropathy.
Machiko Oka +2 more
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BiomedicinesBackground/Objectives: Fabry disease is an X-linked lysosomal storage disease. Earlier studies have mentioned dizziness/balance issues and vestibular involvement as a symptom of Fabry disease. Research on the matter remains scarce. This pilot study aims to show the prevalence of dizziness/balance issues and whether it is due to peripheral, central, or ...
Aslak Broby Johansen +2 more
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Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis [PDF]
Kidney Research and Clinical Practice, 2021 Background Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in ...
Sungjin Chung +9 more
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Micro-machining Techniques for the Fabrication of Fibre Fabry-Perot Sensors [PDF]
, 2006 Fabry-Perot optical fibre sensors have been used extensively for measuring a variety of parameters such as strain, temperature, pressure and vibration. Conventional extrinsic fibre Fabry-Perot sensors are associated with problems such as calibration of ...
Machavaram, V. R.
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Frontiers in Cardiovascular Medicine, 2023 AimsCardiomyopathy in Fabry disease (FD) is a major determinant of morbidity and mortality. This study investigates the effects of FD-specific treatment using enzyme replacement therapy (ERT) and chaperone therapy on left atrial (LA) function using two ...
Christian Pogoda +7 more
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