Global Journal of Medical and Clinical Case Reports

 

 Case Report

 

Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker 

Fabry disease (FD) is a rare X-linked recessive disorder caused by mutations in the gene encoding the lysosomal enzyme α-galactosidase A (α -Gal A). The resulting deficient α -Gal A activity leads to progressive accumulation of glycosphingolipids, predominantly globotriaosylceramide (GL-3) in the lysosomes of many different cell types throughout the body [1]. The manifestations of this complex metabolic disease are progressive and multysistemic, culminating in life-threatening renal, cardiac and cerebrovascular manifestations [2].

http://www.peertechz.com/Clinical-Case-Reports/GJMCCR-1-112.php

 

Comments

Post a Comment

Popular posts from this blog

Case Report: Reynolds Syndrome

International Journal of Dermatology and Clinical Research Case Report Reynolds et al. described in 1971, 6 patients with classical primary biliary cholangitis, who presented concomitantly with varying degrees of scleroderma. Since then this association has been called Reynolds Syndrome.  https://www.peertechz.com/articles/case-report-reynolds-syndrome.pdf  #ReynoldsSyndrome#
Read more

Successful treatment of Budd- Chiari Syndrome with Percutaneous transluminal Balloon Angioplasty

Journal of Cardiovascular Medicine and Cardiology Case Report Introduction: Budd-Chiari syndrome (BCS) is a relatively rare disease in which an obstruction of hepatic venous outfl ow causes intrahepatic venous congestion and portal hypertension.     https://www.peertechz.com/articles/successful-treatment-of-budd-chiari-syndrome-with-percutaneous-transluminal-balloon-angioplasty.pdf
Read more

Apparent Digestibility and Utilization of Protein and Phosphorus in diets of incorporated with Sprouted Sorghum, Phytase and Protease Enzymes for African Catfi sh (Clarias gariepinus)

International Journal of Aquaculture and Fishery Sciences Research Article Apparent digestibility, deposition and retention of crude protein and phosphorus were determined for 30%, 35%, 50% and 55% CP diets incorporated with sprouted sorghum, 750, 1000 and 1250 unitskg-1 phytase and protease enzymes ,fed to African catfish fingerlings. ... https://www.peertechz.com/articles/characteristics-and-status-of-the-highland-lake-hashenge-fishery-tigray-northern-ethiopia.pdf  
Read more