Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery
Publication Date : //
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms and delayed or missed diagnosis. Deficiency in alpha-galactosidase A causes an accumulation of neutral glycosphingolipids such as globotriaosylceramide (Gb3) in lysosomes within various tissues including the vascular endothelium, kidneys, heart, eyes, skin and nervous system. Gb3 accumulation induces pathology via the release of pro-inflammatory cytokines, growth-promoting factors and by oxidative stress, resulting in myocardial extracellular matrix remodelling, left ventricular hypertrophy (LVH), vascular dysfunction and interstitial fibrosis. Cardiac involvement manifesting as ventricular hypertrophy, systolic and diastolic dysfunction, valvular abnormalities and conduction tissue disease is common in AFD and is associated with considerable cardiovascular morbidity and mortality from heart failure, sudden cardiac death and stroke-related death.
Authors : Akhtar M M , Elliott P M ,
Related products :
52062 Aachen Deutschland
Support Karolina Elandt
Fax: (+49) 241 56 00 47 88
Logistic :0241 40 08 90 86
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
firstname.lastname@example.org | Gentaur
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123
Canada Montreal +15149077481
Ceská republika Praha +420246019719
Finland Helsset +358942419041
Magyarország Budapest +3619980547
US New York+17185132983
WP1528: Physiological and Pathological Hypertrophy of the Heart
WP1553: heart diagrams
WP1591: Heart Development
WP2059: Alzheimers Disease
WP2067: Heart Development
WP2075: Alzheimers Disease
WP2199: Seed Development
WP2371: Parkinsons Disease Pathway
Related Genes :
 Value of cardiac biomarker measurement in the differential diagnosis of infiltrative cardiomyopathy patients with preserved left ventricular systolic function.
 Characterization of vertigo and hearing loss in patients with Fabry disease.
 Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease.
 A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells.
 α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease.
 Anderson-Fabry disease in heart failure.
 Value of the CHADS-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.
 Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
 [Fabry disease: about an uncommon case].
 Reply: Impact of Cardio-Renal Syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up.
Enter catalog number :