Results 31 to 40 of about 1,757 (183)
Drugs of Today, 2006 Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure.
Ewa, Jakubowska +2 more
+10 more sources
Romanian Journal of Neurology, 2018 Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis.
Ioana Simina Barac +4 more
openaire +2 more sources
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers
Journal of the American Heart Association, EarlyView., 2021 Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes +14 more
wiley +1 more source
Niemann-Pick disease type C with kidney involvement
Human Pathology: Case Reports, 2021 Niemann-Pick disease type C is a lysosomal storage disease characterized by defects in lipid trafficking, typically involving the liver, spleen, and central nervous system. Only rare reports of renal involvement of Niemann-Pick disease have been reported
Aanand A. Patel +2 more
doaj +1 more source
Ultrastructural alterations of renal tissue in a male patient with Fabry’s disease
Alexandria Journal of Medicine, 2018 Background: Fabry’s disease is an X-linked lipid storage disorder due to deficient lysosomal alpha galactosidase A. Case Presentation: Kidney biopsy was done on a 19 year old male patient with complaint of acroparesthesia, maculopapular skin lesions and ...
Farahnaz Noroozinia +2 more
doaj +1 more source
A method for the quantitative determination of neutral glycosphingolipids in urine sediment
Journal of Lipid Research, 1970 A method is described for the isolation and quantitation of six neutral glycosyl ceramides from human urinary sediment. Total lipids were extracted from sediments of 24-hr urine collections, and the glycosyl ceramides were isolated by silicic acid column
R.J. Desnick, C.C. Sweeley, W. Krivit
doaj +1 more source
Glycosaminoglycans and Fabry's disease
Journal of Biological Research, 2010 -
E. Zinellu +10 more
doaj +1 more source
Pharmacology & Therapeutics, 2009 Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction ...
Frank Gaillard +2 more
openaire +4 more sources
Internal Medicine, 1992 A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells.
H, Kato +5 more
openaire +3 more sources
Journal of Lipid Research, 1969 Concentrations of four neutral glycosyl ceramides were determined in plasma and erythrocytes from nine hemizygous patients with Fabry's disease (a hereditary glycolipid lipidosis), from the sister of one of the patients, and from the heterozygous mother ...
Dennis E. Vance +2 more
doaj +1 more source