Results 31 to 40 of about 4,907,795 (224)
Molecular Genetics and Metabolism Reports, 2019 Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated ...
Amy Kritzer +3 more
doaj +1 more source
Anais Brasileiros de Dermatologia, 2009 A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A.
Paula Boggio +3 more
doaj +1 more source
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
core +1 more source
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 ...
Smyth, Frank +18 more
core +3 more sources
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 +5 more
doaj +1 more source
Otological aspects of Fabry disease in patients with normal hearing [PDF]
, 2019 2019-08We investigated the otological aspects of Fabry disease (FD) in patients with normal hearing. Forty-one patients (21 men, 20 women) with bilaterally normal hearing were recruited, and their otological symptoms and hearing evaluations, which ...
Sone, Michihiko +6 more
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Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]
, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A +32 more
core +2 more sources
Angewandte Chemie, EarlyView.A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster +13 more
wiley +2 more sources
Internal Medicine, 1992 A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells.
KATO, Haruka +5 more
openaire +3 more sources
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 +5 more
core +3 more sources