Results 271 to 280 of about 286,880 (314)

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

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. Veen, A. Kuilenburg, Carla E.M. Hollak, P. Kaijen, J. Voorberg, M. Langeveld   +5 more
semanticscholar   +1 more source

Alpha‐Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients

Therapeutic Apheresis and Dialysis, 2012
AbstractFabry disease is an X‐linked lysosomal storage disorder due to deficient activity of alpha‐galactosidase A (α‐Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of α‐Gal A activity and to determine the prevalence of Fabry disease in a Turkish male hemodialysis population. The activity of plasma
Sozmen, Eser, Basci, Ali, Coker, Mahmut, Duman, Soner, Ucar, Sema Kalkan   +4 more
openaire   +2 more sources

Novel alpha-galactosidase A mutation in a female with recurrent strokes

Clinical Biochemistry, 2012
Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-causing alpha-galactosidase A mutations ...
Tuttolomondo A, Duro G, Miceli S, Di Raimondo D, Pecoraro R, Serio A, Albeggiani G, Nuzzo D, Iemolo F, Pizzo F, Sciarrino S, Licata G, Pinto A   +12 more
openaire   +3 more sources

Plasma α-galactosidase A: Properties and comparisons with tissue α-galactosidases

Biochimica et Biophysica Acta (BBA) - Enzymology, 1978
The human plasma form of alpha-galactosidase A (alpha-D-galactoside galactohydrolase, EC 3.2.1.22) was highly purified and exhibited apparent Km values of 1.9 mM with 4-methylumbelliferyl-alpha-D-galactopyranoside and 0.23 mM with globotriglycosylceramide.
D F, Bishop, C C, Sweeley
openaire   +2 more sources

Pseudodeficiency of alpha-galactosidase A.

Clinical genetics, 1982
Apparent deficiency of alpha-galactosidase A was observed in a 51-year-old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that found in Fabry disease patients, could be demonstrated using both synthetic and natural substrates.
G, Bach, E, Rosenmann, A, Karni, T, Cohen   +3 more
openaire   +1 more source

[Microbial alpha-galactosidase (a review)].

Prikladnaia biokhimiia i mikrobiologiia, 1982
The review discusses properties, distribution and potential use of microbial alpha-galactosidase (alpha-D-galactoside galactohydrolase, EC 3.2.1.22), the enzyme catalyzing degradation of alpha-D-galactoside bonds. Recent years have witnessed many publications describing microbial alpha-galactosidase which, in contrast to the similar enzyme from higher ...
I V, Ulezlo, O M, Zaprometova
openaire   +1 more source

Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease

Neuroscience Letters, 2011
Parkinson's disease (PD) is a progressive neurodegenerative disease. Majority of PD cases are sporadic, resulting from interaction of genetic and environmental factors. Accumulating evidence indicates that autophagy, which delivers alpha-synuclein to lysosomes for degradation, is involved in the PD pathogenesis.
Guanghua, Wu, Shuchao, Pang, Xungang, Feng, Aimei, Zhang, Jifeng, Li, Kejin, Gu, Jian, Huang, Haixin, Dong, Bo, Yan   +8 more
openaire   +2 more sources

α-Galactosidase A in Vascular Disease

Trends in Cardiovascular Medicine, 2007
Deficiency of alpha-galactosidase A (GLA) (Fabry disease) leads to the accumulation of glycosphingolipids in the vasculature leading to multiorgan pathology. In addition to well-described microvascular disease, deficiency of GLA is also characterized by premature macrovascular events such as stroke and possibly myocardial infarction.
Peter F, Bodary, James A, Shayman, Daniel T, Eitzman   +2 more
openaire   +2 more sources

Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease

Auris Nasus Larynx, 2010
Fabry disease is characterized by genetic alpha-galactosidase A deficiency, resulting in accumulation of glycolipids (GL-3) and tissue damage. Hearing loss is also common and attributed to GL-3 accumulation in the inner ear. The only reported histological studies dealt with murine and human specimens.
Yuika, Sakurai, Rie, Suzuki, Ryuichi, Yoshida, Hiromi, Kojima, Michiko, Watanabe, Yoshinobu, Manome, Toya, Ohashi, Yoshikatu, Eto, Hiroshi, Moriyama   +8 more
openaire   +2 more sources

A case of Fabry disease (alpha-galactosidase A deficiency).

The Journal of the Kentucky Medical Association, 1994
Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease.
W C, Thornbury, P, Aaron
openaire   +1 more source