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Biomedical subjects

E M Beĭer

Publications and source records attributed to E M Beĭer.

9 recordsLinked to original sources
PubMed1991

[Gaucher's disease].

Two cases of Gaucher's disease are described. The diagnosis was based on clinical appearance, observation of the typical cells in the sternal and splenic puncture biopsies. Leucocytic beta-glucocerebrosidase activity was found inhibited in contrast to normal activity of the other lysosomal glycosidases. A female of 51 developed significant changes in the bones, progressive enlargement of the liver, chronic calculous cholecystitis 36 years after splenectomy. Current aspects of pathogenesis, clinical symptoms, diagnosis and treatment of Gaucher's disease are reviewed.

Adult↗
PubMed1984

[Reconstruction of hexosaminidase isoenzymes during hybridization of fibroblasts from Tay-Sachs and Sandhoff diseases].

The method of hybridization was used to obtain homokaryons of normal fibroblasts, of fibroblasts from children with Tay-Sach's and Sandhoff's diseases (TSD and SD) and heterokaryons of fibroblasts from children with the same diseases. Hexosaminidase A was detected in heterokaryons of fibroblasts from children with TSD and SD by isoelectric focusing. The data pertaining to the heterogeneity of different forms of hexoaminidase are discussed as are the reconstructions of the isozymes depending on the time and index of hybridization. It is stressed that the method of genetic complementation may be used for confirming the diagnoses of TSD and SD and further study of their heterogeneity.

Child↗
PubMed1979

[Heterogeneity of alpha-L-fucosidase from human kidney during affinity chromatography].

During affinity chromatography on N-(epsilon-aminocaproyl)-beta-L-fucopyranosylaminosepharose of the enzyme preparation of alpha-L-fucosidase from human kidney the elution profile of the enzyme revealed two components, which can be designated as alpha-L-fucosidases A and B. In the absence of sodium aside in the buffer mixtures used one of the components (fucosidase A) was retained by an affinity adsorbent, while the other one (fucosidase B) was adsorbed under the same conditions; the latter component was eluted with a solution containing the enzyme inhibitor--L-fucose. Data from the enzyme rechromatography suggest an equilibrium of the fucosidases A and B, which differ in their affinities for the affinity sorbent.

Chromatography, Affinity↗
PubMed1977

[Substrate specificity and some properties of free and immobilized animal alpha-L-fucosidase].

The effect of a partially purified preparation of pig kidney alpha-L-fucosidase on some glycoproteins--human and rabbit gamma-globulin, glycoprotein from sheep submaxillary gland and ceruloplasmin--was studied. It was shown that the action of the enzyme of the glycoproteins was not accompanied by a release of fucose. A comparative study of the properties of free and concanavalin A-Sepharose 4B-bound alpha-L-fucosidase was done. The experimental data is indicative of difference in the pH-dependenced and thermostability of these two enzyme forms. It was found that bound alpha-L-fucosidase, similar to the free form, did not split off fucose from the native blood group substances. The data of isoelectric fucosing of alpha-L-fucosidase suggests the existence of enzyme polymorphism.

Animals↗
PubMedDate not supplied

[Biochemical diagnosis of Anderson-Fabry disease in two brothers].

Activity of several lysosomal enzymes was studied in leukocytes, blood plasma and skin fibroblasts of two adult brothers with clinical diagnosis of Fabry disease. Activity of ceramide trihexoside-galactosidase was distinctly decreased in both patients. The residual enzymatic activity constituted 5-6% in the patients leukocytes, less than 10% in blood plasma and 25% in fibroblasts as compared with controls. Differences in composition of alpha-D-galactosidase multiple forms were detected in fibroblasts and blood cells of the patients with Fabry disease as compared with normal leukocytes by means of isoelectric focusing.

Clinical Enzyme Tests↗
PubMedDate not supplied

[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion].

Activities and isozyme spectra of alpha-L-fucosidase and beta-D-hexosaminidase were similar both in biopsy material from fetal zone of placenta (chorion) and in chorion tissue obtained after abortion. Evaluation of the isozyme spectrum of these glycosidases in biopsy reeterial of chorion might be carried out for prenatal detection of fucosidosis (deficiency of alpha-L-fucosidase), Tay-Sachs disease (deficiency of hexosaminidase A) and of Sandhoff disease (deficiency of hexosaminidases A and B).

Abortion, Spontaneous↗