Results 21 to 30 of about 5,245,219 (176)

Update on role of agalsidase alfa in management of Fabry disease [PDF]

, 2011
Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
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The 26 families, their 115 Fabry disease patients and their corresponding GLA-gene variants of the Danish Fabry disease register.

, 2022
Type of the GLA gene pathogenic variants, protein nomenclature, colloquial nomenclature, coding sequence (according to http://varnomen.hgvs.org), site of mutation and genotype classification (according to International Fabry Disease Genotype-Phenotype ...
Ulla Feldt-Rasmussen (317604), Mette Mogensen (6059357), Vitor Hugo Fraga de Abreu (14129178), Tatiana Kristensen (14129184), Allan M. Lund (11933730), Caroline Kistorp (2993424), Åse Krogh Rasmussen (8098304), Lotte Hahn Enevoldsen (14129181), Mads Klokker (669761), Flemming Wibrand (4591960), Lars Kober (12873158), Peter Oturai (647627), Henning Bundgaard (441832), Vibeke Backer (764121), Morten Dunoe (14129163), Farah Arif (14129193), Soren S. Sorensen (14129169), Puriya D. W. Yazdanfard (14129172), Margrethe Bastholm Bille (14129190), Vibeke A. Larsen (14129175), Lis F. Hasholt (14129166), Grigoris Effraimidis (2617039), Kirsten Svenstrup (14129187)   +22 more
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Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

Journal of Medical Case Reports, 2012
Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys ...
Felisati Giovanni, Salvatici Elisabetta, Pipolo Carlotta, Portaleone Sara, Riva Enrica, Giovannini Marcello   +5 more
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Gene Editing in Fabry Disease: A Strategy Delineation [PDF]

, 2022
Oral presentation by first authorThe use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases.
Moreira, Luciana, Amaral, Olga, Duarte, Ana J., Ribeiro, Diogo   +3 more
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Characterization of a novel three-section tunable slotted fabry-perot laser [PDF]

, 2010
A novel three-section tunable slotted-Fabry-Perot laser has been examined. Characterizations of the linewidth, SMSR and RIN indicate that this type of laser may be a suitable source for dynamic networks employing advanced optical modulation ...
Reid, Douglas A., Barry, Liam P., Smyth, Frank, O'Brien, P., Roycroft, Brendan, Corbett, Brian, Shi, Kai, Peters, F.H., Song, J.H.   +8 more
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Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

, 2012
Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage
the Interdisciplinary Study Group on Fabry Disease, Gnarra,M, Aspite,N, Cardinali,G, Zampetti,A, BONGIORNO, Maria Rita, Manco,S, Morrone,A, Feliciani C., Linder,D, Parini,R, Antuzzi,D, O.r.t.e.u.,.C. H., Kovacs,D   +13 more
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Short pulse generation with 40 GHz passively-mode locked Q-dashed Fabry-Pérot laser [PDF]

, 2009
Generation of sub-picosecond pulses by a DC-biased passively mode-locked Fabry-Perot laser is demonstrated. By using a tunable band-pass filter, it is observed that the width of the generated pulses decreases in direct proportion to the optical modes ...
Latkowski, Sylwester, Sylwester Latkowski, Maldonado-Basilio, Ramón, Pascal Landais, Ramon Maldonado-Basilio, Landais, Pascal   +5 more
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Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.

PLoS ONE, 2014
A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk.
Nurcan Uçeyler, György A Homola, Hans Guerrero González, Daniela Kramer, Christoph Wanner, Frank Weidemann, László Solymosi, Claudia Sommer   +7 more
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Polycystic kidney disease complicates renal pathology in a family with Fabry disease

Molecular Genetics and Metabolism Reports, 2022
Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease is a renal condition in which cysts are found, which have a different presentation ...
Leepakshi Johar, Grace Lee, Angela Martin-Rios, Kathy Hall, Cheng Cheng, Dawn Lombardo, Madeleine Pahl, Virginia Kimonis   +7 more
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Fabry cardiomyopathy presenting with a high defibrillation threshold: A short case report

Journal of Arrhythmia, 2015
Fabry disease is an X-linked recessive glycosphingolipid storage disorder caused by a deficiency of lysosomal enzyme α-galactosidase A. It is recognized that Fabry disease patients often have ventricular arrhythmias.
Takashi Kanda, MD, Masaharu Masuda, MD, Akihiro Sunaga, MD, Masashi Fujita, MD, PhD, Osamu Iida, MD, Shin Okamoto, MD, Takayuki Ishihara, MD, Kiyonori Nanto, MD, Tatsuya Shiraki, MD, Fusako Sera, MD, Masaaki Uematsu, MD, PhD   +10 more
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