Results 61 to 70 of about 4,991,114 (167)

Neurological manifestations of Fabry disease

, 2023
Neurological manifestations of Fabry disease Abstract The presented thesis deals with cerebrovascular manifestations of a rare X-linked disease, Fabry disease (FD).
Reková, Petra
core  

Fabry disease : the many faces of a single disorder [PDF]

, 2012
In 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, separately described a disease characterized by skin lesions, known as angiokera-tomas. This issue contains two reports of Fabry disease (FD) patients presenting with
Torra Balcells, Roser, Ortiz, Alberto
core   +1 more source

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

Orphanet Journal of Rare Diseases, 2019
Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis.
Ángela López-Sainz, Vicente Climent, Tomas Ripoll-Vera, Maria Angeles Espinosa, Roberto Barriales-Villa, Marina Navarro, Javier Limeres, Diana Domingo, David C. Kasper, Pablo Garcia-Pavia   +9 more
doaj   +1 more source

Newborn screening for Fabry disease in the western region of Japan

Molecular Genetics and Metabolism Reports, 2020
Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America.
Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura   +11 more
doaj   +1 more source

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease. [PDF]

PLoS ONE, 2016
The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium.
Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer   +6 more
doaj   +1 more source

Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross‐Sectional Multicentre Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Fabry disease (FD) is a rare, X‐linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross‐sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with ...
Nicola Vitturi, Giorgia Gugelmo, Andrea Gasperetti, Federica Duregon, Alessandro Dalmonico, Livia Lenzini, Sara Sponchiado, Gianni Carraro, Giacomo Marchi, Mattia Cominacini, Claudia Momentè, Federica Baciga, Claudia Baschirotto, Federica Caccia, Domenico Girelli, Andrea Ermolao, Gian Paolo Fadini, Yuri Battaglia   +17 more
wiley   +1 more source

Brillouin Microscopy of Breast tumor Spheroids On‐a‐Chip: Mechanical and Transcriptional Responses to Microfluidic‐Induced Rapid Deformations

Advanced Science, Volume 13, Issue 4, 19 January 2026.
Brillouin‐Raman Microspectroscopy on‐a‐Chip (BRmS) enables real‐time analysis of breast tumor spheroids in microfluidic channels. Following cyclical deformations, MCF10.DCIS.com spheroids are captured in recovery traps and imaged with BRmS. The applied deformations trigger a stiffening response marked by increased frequency shifts, elevation of the ...
Mona Makkieh, Alessandra Anna Passeri, Davide Lazzari, Stefano Marchesi, Andrea Disanza, Rafal Khaled Ahmad Salem, Francesco Bonacci, Camillo Mazzella, Emanuele Martini, Mattia Tonani, Leonardo Donati, Edoardo Bellini, Hind Abdo, Judith Pineau, Serena Magni, Fabrizio Orsenigo, Matthieu Piel, Daniele Fioretto, Sabata Martino, Maurizio Mattarelli, Giorgio Scita, Brenda J. Green, Silvia Caponi   +22 more
wiley   +1 more source

Parsing Fabry Disease Metabolic Plasticity Using Metabolomics

, 2021
International audienceBackground: Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal α-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a
Marret, Stéphane, Stéphane Marret, Ducatez, Franklin, Pereira, Tony, Carine Pilon, Olivier Benveniste, Mauhin, Wladimir, Agnès Boullier, Boullier, Agnès, Lidove, Olivier, Pilon, Carine, Bekri, Soumeya, Tony Pereira, Aubert, Raphaël, Tebani, Abdellah, Wladimir Mauhin, Raphaël Aubert, Olivier Lidove, Soumeya Bekri, Benveniste, Olivier, Franklin Ducatez, Abdellah Tebani   +21 more
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Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease

Stem Cell Research
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li, Jing Luan, Yali Yang, Guowei Li, Zhouhui Hu, Che Yu, Yazhou Cui, Jinxiang Han   +7 more
doaj   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source