Results 111 to 120 of about 4,907,795 (224)

Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account.

PLoS ONE
BackgroundRare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women.
Philipp Hahn, Werner Lechner, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke   +6 more
doaj   +1 more source

Fabry disease

Diagnostic and Interventional Imaging, 2015
Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X., Pruvo, J.-P.   +6 more
openaire   +3 more sources

Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be ...
Hiroshi Kobayashi, Norio Nakata, Sayoko Izuka, Kenichi Hongo, Masako Nishikawa   +4 more
doaj   +1 more source

The Kidney in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj   +1 more source

Functional Hyperthermia Presenting as Fever of Unknown Origin With Normal Inflammatory Markers in an Adolescent

Journal of General and Family Medicine, Volume 27, Issue 5, September 2026.
Ryuichi Minoda Sada, Hirofumi Miyake, Hiroyuki Akebo, Kazuhiro Hatta   +3 more
wiley   +1 more source

Bilateral avascular necrosis: A rare complication of Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano, Joel Wells, Nicholas Stanzione, Virginia Kimonis   +3 more
doaj   +1 more source

Fabry Disease - literature review [PDF]

Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common.
Adrian Muzyka, Julia Wąż, Julia Rydzek, Krystian Wdowiak, Agnieszka Maciocha, Ewa Gardocka, Aleksandra Witas   +6 more
core   +1 more source

The frequency-dependent directivity of a planar Fabry-Perot polymer film ultrasound sensor [PDF]

, 2007
A model of the frequency-dependent directivity of a planar, optically-addressed, Fabry-Perot (FP), polymer film ultrasound sensor is described and validated against experimental directivity measurements made over a frequency range of 1 to 15 MHz and ...
Beard, PC, Cox, BT
core  

Fabry disease complicating pregnancy.

, 2010
BACKGROUND: Few cases of Fabry disease, an X-linked lysosomal storage disorder, complicating pregnancy are reported. CASE: A 36-year-old primigravida with known Fabry disease manifest with acroparesthesias, tinnitus, and hearing loss delivered a healthy ...
Wax, Joseph R, Blackstone, Jacquelyn, Cartin, Angelina, Smith, Wendy, Blaszyk, Hagen, Parent, Emily, Pinette, Michael G   +6 more
core   +1 more source

Fabry - Eichinger : Medizin und Ästhetik; eine künstlerische Annäherung an Wilhelm Fabry

, 2010
Henning Eichinger beschäftigt sich seit dem Jahr 2000 in seiner künstlerischen Arbeit mit den scheinbaren Gegensätzen von Kunst und Wissenschaft. Als Gewinner des Kunstpreises des Fabry-Museums im Jahre 2000 stieß er auf den berühmten Wundarzt und ...
Eichinger, Henning, Ühlein, Hermann
core   +1 more source