Results 201 to 210 of about 526,926 (248)

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
Ucar, Sema Kalkan, Sozmen, Eser, Duman, Soner, Basci, Ali, Coker, Mahmut   +4 more
openaire   +4 more sources

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease

Clinical Biochemistry, 2012
OBJECTIVES: Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD).
Paolo Colomba, Carmela Zizzo, Daniele Francofonte   +2 more
exaly   +1 more source

Fabry's Disease: Alpha-Galactosidase Deficiency

Science, 1970
The leukocytes of male patients with Fabry's disease are deficient in α-galactosidase. The α-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of β-galactosidase, β-acetylgalactosaminidase, and β-acetylglucosaminidase in the leukocytes of affected ...
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

Immobilized alpha-Galactosidase in the Biochemistry Laboratory

Journal of Chemical Education, 2007
This laboratory experiment was designed to demonstrate the application of immobilized galactosidase in food industry to hydrolyze raffinose family oligosaccharides in soymilk. This laboratory experiment was conducted for postgraduate students of biochemistry and developed for graduate and undergraduate students of biochemistry, biotechnology, chemical ...
V. H. Mulimani, K. Dhananjay
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

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

[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Rinsho byori. The Japanese journal of clinical pathology, 1997
Fabry disease is characterized by a deficiency of lysosomal alpha-galactosidase (alpha-Gal) and the accumulation of glycosphingolipid (e.g. predominantly globotriaosylceramide) in various tissues, mainly in lysosomes of the vascular endothelium. This disorder is currently classified into two clinical phenotypes; classical severe type and atypical ...
T, Okumiya, T, Takata, M, Sasaki, H, Sakuraba   +3 more
openaire   +1 more source

Multidimensional computational strategies enhance the thermostability of alpha-galactosidase

International Journal of Biological Macromolecules
Alpha-Galactosidase has significant industrial application value in food processing, animal nutrition and medical applications. Microbial-derived α-galactosidases predominate industrial implementation due to high productivity, yet their inherent thermal instability necessitates systematic protein engineering.
Youfeng Zou, Pu Zheng, Pengcheng Chen, Xiaowei Yu, Dan Wu   +4 more
openaire   +2 more sources

[Fabry disease (alpha-galactosidase deficiency)].

Nihon rinsho. Japanese journal of clinical medicine, 1996
Fabry disease is an X-linked glycosphingolipid storage disorder resulting from a deficiency of lysosomal alpha-galactosidase (alpha-Gal; EC 3.2.1.22). Classical form patients, with clinical manifestations of generalized angiopathy of early onset, usually show no detectable alpha-Gal activity.
T, Okumiya, H, Sakuraba
openaire   +1 more source