Vasculopathy in patients with Fabry disease: current controversies and research directions
SM Rombach, TB Twickler, J Aerts, GE Linthorst… - Molecular genetics and …, 2010 - Elsevier
Fabry disease is an X-linked lysosomal storage disorder due to deficiency of the enzyme α-
galactosidase A. The principal clinical manifestations of Fabry disease consist of …
galactosidase A. The principal clinical manifestations of Fabry disease consist of …
Neurological complications of Anderson-Fabry disease
A Tuttolomondo, R Pecoraro, I Simonetta… - Current …, 2013 - ingentaconnect.com
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma,
corneal opacity, hypo/and anhidrosis, gastrointestinal symptoms, renal and cardiac …
corneal opacity, hypo/and anhidrosis, gastrointestinal symptoms, renal and cardiac …
Mechanical characterisation of polyurethane elastomer for biomedical applications
V Kanyanta, A Ivankovic - Journal of the mechanical behavior of biomedical …, 2010 - Elsevier
Mechanical testing and modelling of a material for biomedical applications have to be based
on conditions representative of the application of interest. In this work, an ether-based …
on conditions representative of the application of interest. In this work, an ether-based …
Onset and progression of the Anderson–Fabry disease related cardiomyopathy
C Kampmann, A Linhart, F Baehner, T Palecek… - International journal of …, 2008 - Elsevier
BACKGROUND: Cardiac involvement is responsible for substantial morbidity and mortality
in Anderson–Fabry disease (AFD). We sought to document its onset and progression in a …
in Anderson–Fabry disease (AFD). We sought to document its onset and progression in a …
Enzyme therapy for lysosomal storage disease: principles, practice, and prospects
GA Grabowski, RJ Hopkin - Annual review of genomics and …, 2003 - annualreviews.org
Over the past three decades, enzyme therapy for lysosomal storage diseases has moved
from an academic pursuit to direct delivery of effective clinical care for affected patients and …
from an academic pursuit to direct delivery of effective clinical care for affected patients and …
Intracardiac and intrarenal renin-angiotensin systems: mechanisms of cardiovascular and renal effects
V Raizada, B Skipper, W Luo… - Journal of Investigative …, 2007 - journals.sagepub.com
The renin-angiotensin system (RAS) is a hormonal system that controls body fluid volume,
blood pressure, and cardiovascular function in both health and disease. Various tissues …
blood pressure, and cardiovascular function in both health and disease. Various tissues …
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease
RJ Kalliokoski, KK Kalliokoski, J Sundell… - Journal of inherited …, 2005 - Springer
Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder due to deficient
α-galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in …
α-galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in …
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study
DF Moore, F Ye, ML Brennan, S Gupta… - Journal of Magnetic …, 2004 - Wiley Online Library
Purpose To test the hypothesis that reactive oxygen species contribute to the cerebral
hyperperfusion in Fabry disease. Material and Methods We examined the effect of …
hyperperfusion in Fabry disease. Material and Methods We examined the effect of …
Structural and functional changes in peripheral vasculature of Fabry patients
RJ Kalliokoski, KK Kalliokoski, M Penttinen… - Journal of inherited …, 2006 - Springer
Objective: Fabry disease is a lysosomal storage disorder due to deficient α-galactosidase A
activity, which leads to glycosphingolipid accumulation especially in vascular smooth …
activity, which leads to glycosphingolipid accumulation especially in vascular smooth …
[HTML][HTML] Trapping and photoacoustic detection of CTCs at the single cell per milliliter level with magneto-optical coupled nanoparticles
Circulating tumor cells (CTCs) have been reported to correlate most closely with cancer
development, and can serve as an important marker for metastatic malignancy, tumor …
development, and can serve as an important marker for metastatic malignancy, tumor …