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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

[HTML][HTML] Trapping and photoacoustic detection of CTCs at the single cell per milliliter level with magneto-optical coupled nanoparticles

X Hu, CW Wei, J Xia, I Pelivanov… - Small (Weinheim an …, 2013 - ncbi.nlm.nih.gov
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 …