Gotowe bibliografie tematyczne / Anderson-Fabry disease

Spis treści

  1. Artykuły w czasopismach
  2. Rozprawy doktorskie
  3. Książki
  4. Części książek
  5. Streszczenia konferencji

Gotowa bibliografia na temat „Anderson-Fabry disease”

Autor: Grafiati
Data publikacji: 2 czerwca 2025
Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Anderson-Fabry disease"

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Di Toro, Alessandro, Valentina Favalli, and Eloisa Arbustini. "Anderson–Fabry disease." Journal of Cardiovascular Medicine 19 (February 2018): e1-e5. http://dx.doi.org/10.2459/jcm.0000000000000637.

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Beirão, Idalina, Ana Cabrita, Márcia Torres, Fernando Silva, Patricio Aguiar, and Ana Marta Gomes. "Anderson-Fabry Disease." Journal of Inborn Errors of Metabolism and Screening 4 (July 29, 2016): 232640981666937. http://dx.doi.org/10.1177/2326409816669372.

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WALLACE, H. J. "Anderson-Fabry disease*." British Journal of Dermatology 88, no. 1 (2006): 1–24. http://dx.doi.org/10.1111/j.1365-2133.1973.tb06666.x.

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Morgan, S. H., and M. A. Crawfurd. "Anderson-Fabry disease." BMJ 297, no. 6653 (1988): 872–73. http://dx.doi.org/10.1136/bmj.297.6653.872.

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Duro, Giovanni, and Marco Lombardi. "Anderson-Fabry disease. Conclusion." Giornale di Tecniche Nefrologiche e Dialitiche 29, no. 1_suppl (2017): S35—S36. http://dx.doi.org/10.5301/gtnd.2017.17369.

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Duro, Giovanni, and Marco Lombardi. "Anderson-Fabry disease. Introduction." Giornale di Tecniche Nefrologiche e Dialitiche 29, no. 1_suppl (2017): S1—S2. http://dx.doi.org/10.5301/gtnd.2017.17370.

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Esposito, Roberta, Ciro Santoro, Giulia Elena Mandoli, et al. "Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future." Journal of Clinical Medicine 10, no. 9 (2021): 1994. http://dx.doi.org/10.3390/jcm10091994.

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Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Cardiac imaging plays a key role in the evaluation and management of Anderson-Fabry disease patients. The present review highlights the value and perspectives of standard and advanced car
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Tuttolomondo, Antonino, Rosaria Pecoraro, Irene Simonetta, Salvatore Miceli, Antonio Pinto, and Giuseppe Licata. "Anderson-Fabry Disease: A Multiorgan Disease." Current Pharmaceutical Design 19, no. 33 (2013): 5974–96. http://dx.doi.org/10.2174/13816128113199990352.

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Kes, Petar, Vesna Furic-Curko, and Nikolina Basic-Jukic. "Anderson-Fabry Disease in Females." BANTAO Journal 12, no. 1 (2015): 20–26. http://dx.doi.org/10.2478/bj-2014-0005.

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AbstractAnderson-Fabry disease (AFD) is the second most common lysosomal storage disease. This is an X-linked disorder due to lysosomal enzyme deficiency of a-galac-tosidasae A, that results in accumulation of globotriaosyl-ceramide in various tissues leading to organ damage, and resulting in a variety of cardiovascular, renal, neural, der-matological, psychological signs and symptoms. Despite being X-linked, heterozygous females can suffer from symptoms equally severe as male hemizygotes. This paper presents signs, symptoms, specific diagnostic approach and treatment possibilities of AFD in f
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Simonetta, Irene, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli, and Antonio Pinto. "Treatment of Anderson-Fabry Disease." Current Pharmaceutical Design 26, no. 40 (2020): 5089–99. http://dx.doi.org/10.2174/1381612826666200317142412.

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: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific lab
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Rozprawy doktorskie na temat "Anderson-Fabry disease"

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Shafi, N. T. "Pulmonary involvement in Anderson Fabry Disease." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1414900/.

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Aim: To investigate the clinical, physiological, radiological and pathological changes which occur in the lungs in Anderson Fabry Disease (AFD) Methods: In this study we have used lung function testing, high resolution CT scanning and induced sputum examination to investigate the lung. We have measured sputum enzyme activity using fluorometric assays, cell populations using flow cytometry and cytokines using enzyme linked immunosorbent assays. We have compared investigation findings from AFD subjects with those from patient’s with airways disease in the form of chronic obstructive pulmonary di
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Jeevaratnam, P. "Early manifestations of Anderson Fabry disease." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1396784/.

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This thesis examines some early renal and neurological manifestations in Anderson Fabry disease (AFD). First, estimating glomerular filtration rate in AFD using serum creatinine (Cr) based equations was assessed in 106 AFD patients. The Modification in diet in renal disease (MDRD) and the Chronic kidney disease epidemiology collaboration (CKD-EPI) equations had the least bias and were the best methods of estimating glomerular filtration rates in AFD patients with chronic kidney disease (CKD) stage 1 to 3. The monitoring of renal involvement in AFD use methods which assess glomerular function p
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SIMONETTA, Irene. "VALUTAZIONE DI ALCUNI BIOMARKERS DI STRESS OSSIDATIVO E DELLA FREQUENZA DEGLI APLOGRUPPI MITOCONDRIALI IN UNA POPOLAZIONE DI PAZIENTI CON MALATTIA DI ANDERSON-FABRY." Doctoral thesis, Università degli Studi di Palermo, 2023. https://hdl.handle.net/10447/581510.

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La malattia di Fabry comprende una estrema varietà fenotipica in relazione con il grande numero di organi e sistemi coinvolti. La diagnosi di malattia di Fabry è complessa a causa del numero di organi/sistemi coinvolti e dei fenotipi clinici non specifici e della sua rarità. La progressione clinica della malattia si manifesta tra i 30-40 anni quando per i numerosi organi coinvolti compaiono manifestazioni cliniche quali insufficienza cardiaca, renale ed eventi cerebrovascolari. La morte di solito sopraggiunge durante la quarta/quinta decade di vita ed è secondaria all’interessamento card
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Książki na temat "Anderson-Fabry disease"

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Winearls, Christopher G. Kidney disease-focused features on examination. Edited by Christopher G. Winearls. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0005.

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Examination depends on the context and clinical presentation and the emphasis will be different too. Tell-tale signs are often unnoticed in the general examination of the eyes (lecithin cholesterol acyltransferase deficiency, Fabry disease, corneal calcification), the skin (vasculitis, Anderson–Fabry disease), the optic fundus (haemorrhages and exudates, papilloedema), and the hands (nail patella syndrome, splinter haemorrhages of systemic lupus erythematosus, and subacute bacterial endocarditis). Many of these are illustrated. The regular review of patients on dialysis or with a kidney transp
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Lombardi, Massimo, and Antonia Camporeale. Cardiovascular magnetic resonance in less common pathologies. Edited by Dudley Pennell. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0111.

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Contrast-enhanced cardiovascular magnetic resonance plays a pivotal role in diagnostic and prognostic definition of less common pathologies such as Anderson–Fabry disease, cardiac amyloidosis, left ventricular non-compaction, sarcoidosis, and cardiac iron loading.
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Części książek na temat "Anderson-Fabry disease"

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Hauser, Anna-Christine. "Anderson-Fabry Disease." In Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_67.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Anderson-Fabry Disease." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8475.

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Pastores, Gregory M. "Agalsidase Alfa in the Treatment of Anderson-Fabry Disease." In Fabry Disease. Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9033-1_25.

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Meroni, M., A. Sessa, G. Battini, S. Tazzari, and L. Torri Tarelli. "Kidney Involvement in Anderson-Fabry Disease." In Hereditary Kidney Diseases. KARGER, 1997. http://dx.doi.org/10.1159/000059897.

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Beck, M., C. Whybra, K. Wendrich, A. Gal, and M. Ries. "Anderson-Fabry Disease in Children and Adolescents." In Contributions to Nephrology. KARGER, 2001. http://dx.doi.org/10.1159/000060197.

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Havranek, Stepan, Ales Linhart, Zuzana Urbanova, and Uma Ramaswami. "Early Cardiac Changes in Children with Anderson–Fabry Disease." In JIMD Reports. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_222.

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Stern, Edward, and Mark Harber. "Anderson-Fabry Disease and Other Inherited Lipid Disorders of the Kidney." In Practical Nephrology. Springer London, 2014. http://dx.doi.org/10.1007/978-1-4471-5547-8_44.

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Ware, Thuvaraka, and Shabbir H. Moochhala. "Anderson-Fabry Disease and Other Inherited Lipid Disorders of the Kidney." In Primer on Nephrology. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-76419-7_63.

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Torricelli, F., F. Martinelli, E. Pelo, et al. "Anderson-Fabry Disease: Molecular Analysis and Clinical Manifestations in Three Italian Families." In Contributions to Nephrology. KARGER, 2001. http://dx.doi.org/10.1159/000060189.

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Martinelli, F., F. Bergesio, R. Piperno, et al. "Anderson-Fabry Disease. Three Families Detected in Two Years: Unusual Occurrence or Good Interdisciplinary Collaboration?" In Hereditary Kidney Diseases. KARGER, 1997. http://dx.doi.org/10.1159/000059898.

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Streszczenia konferencji na temat "Anderson-Fabry disease"

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Verdone, Chiara, Matteo Gravina, Grazia Casavecchia, Rodolfo Belfiore, and Benedetta Di Millo. "Explainable AI Approach for Cardiac Involvement Detection in Anderson-Fabry Disease." In 14th International Conference on Data Science, Technology and Applications. SCITEPRESS - Science and Technology Publications, 2025. https://doi.org/10.5220/0013653700003967.

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