Anderson-Fabry disease (E C 3.2.1.22, MIM 301500) is an X linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA). 2 The onset of the disease and the severity of clinical manifestations depend principally on residual GLA enzymatic activity. Fabry disease can be classified into two clinical phenotypes: the classical form and the cardiac variant. 3 The class...

Anderson-Fabry disease (E C 3.2.1.22, MIM 301500) is an X linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA). 2 The onset of the disease and the severity of clinical manifestations depend principally on residual GLA enzymatic activity. Fabry disease can be classified into two clinical phenotypes: the classical form and the cardiac variant. 3 The class...

BACKGROUND Sphingolipid deposition in Fabry disease causes left ventricular (LV) hypertrophy, of which the accurate assessment is essential. Cardiovascular magnetic resonance (CMR) has been proposed as the gold standard. However, there is debate in the literature as to whether papillary muscles and trabeculations (P&T) should be included in LV mass (LVM). METHODS/RESULTS We examined the accur...

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding the α-galactosidase A (α-Gal A) lysosomal enzyme, which results in globotriaosylceramide (Gb3) storage in vascular endothelial cells and different cell types throughout the body. Involvement of the kidney and heart is life threatening, and fibrosis of these organs is considered to be involved in the...

BACKGROUND Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is...

BACKGROUND Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder. OBJECTIVES To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials. DESIGN Prospective, cross-sectional, obse...

A simple intrinsic Fabry-Perot interferometric (IFPI) sensor is developed. The sensor is fabricated by two micro air gaps as reflective mirrors in a fiber to form a Fabry-Perot cavity. Theoretical and experimental studies of the sensor are described. Experimental results show that high resolution and high sensitivity can be achieved. Two structures of micro-air-gap-based IFPI sensors offer more...

Title Page Title: How can we design effective instructions to promote transfer? Author(s): Hee Seung Lee, Shawn Betts, and John R. Anderson Hee Seung Lee Carnegie Mellon University [email protected] Shawn Betts Carnegie Mellon University [email protected] John R. Anderson Carnegie Mellon University [email protected]