Results 21 to 30 of about 114,325,321 (319)
Exploring the impact of 1-deoxynojirimycin on alpha-galactosidase activity and chickpea seed germination through in vitro experiments and molecular docking analysis [PDF]
Journal of Seed Science, 2023 : Seed germination is a tightly regulated physiological process. Hydrolytic enzymes provide energy that brings physiological, biochemical, and physical changes to the seed during germination.
Krishnamoorthy Vengatesh Prasanna +3 more
doaj +1 more source
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. [PDF]
New England Journal of Medicine, 2001 Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease of the kidneys, heart, and brain.
Christine M. Eng +8 more
semanticscholar +3 more sources
Lentivirus-mediated gene therapy for Fabry disease
Nature Communications, 2021 Treatments for Fabry disease, an inherited lysosomal disorder caused by the deficiency of the enzyme alpha-galactosidase A, are not fully efficacious.
Aneal Khan +23 more
doaj +1 more source
Архивъ внутренней медицины, 2013 This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.
Г. П. Арутюнов +1 more
doaj +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2022 Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of lysosomal globotriaosylceramide and is inherited in an X-linked ...
Jesus Alfredo Uribe-Ardila +1 more
doaj +1 more source
Molecular Genetics and Metabolism, 2019 BACKGROUND Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of male patients with the classical disease phenotype.
S. J. van der Veen +5 more
semanticscholar +1 more source
Evaluation of beta-galactosidase activity in tissue in the presence of blood [PDF]
, 2000 The reporter gene for beta -galactosidase is frequently used to determine the efficiency of gene transfer in arteries. However, blood is often present in arterial explants and may compromise the results by the presence of hemoglobin. The light absorption
Pelisek, Jaroslav +2 more
core +1 more source
Characterization of small fiber pathology in a mouse model of Fabry disease
eLife, 2018 Fabry disease (FD) is a life-threatening X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Small fiber pathology and pain are major FD symptoms of unknown pathophysiology.
Lukas Hofmann +9 more
doaj +1 more source
Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. [PDF]
PLoS ONE, 2015 We developed an immunochromatography-based assay for detecting antibodies against recombinant α-galactosidase A proteins in serum. The evaluation of 29 serum samples from Fabry patients, who had received enzyme replacement therapy with agalsidase alpha ...
Sachie Nakano +12 more
doaj +1 more source
The coincidence of IgA nephropathy and Fabry disease
BMC Nephrology, 2013 Background IgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD). Case presentation A 26 year-old man underwent a renal
Maixnerová Dita +10 more
doaj +1 more source