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Your search keyword '"S. S. Gargaun"' showing total 2 results
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2 results on '"S. S. Gargaun"'

1. First‐trimester enzyme exclusion of farber disease using a micromethod with [ 3 H]ceramide

Author

X. D. Krasnopolskaya, V. S. Akhunov, and S. S. Gargaun

Subjects
Male, medicine.medical_specialty, Ceramide, Pathology, Ceramides, Tritium, Amidohydrolases, chemistry.chemical_compound, Pregnancy, Prenatal Diagnosis, Internal medicine, Ceramidases, Genetics, medicine, Humans, Genetics (clinical), chemistry.chemical_classification, Farber disease, Fetus, business.industry, Microchemistry, Infant, medicine.disease, Ceramidase, Pregnancy Trimester, First, First trimester, Enzyme, Endocrinology, medicine.anatomical_structure, Chorionic Villi Sampling, chemistry, High specific activity, embryonic structures, Chorionic villi, Female, Chorionic Villi, Lysosomes, business
Abstract

Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [3H]Ceramide with high specific activity was prepared and used to confirm diagnosis in the patient after her death and for prenatal studies in this family. A micromethod was developed for ceramidase assay in chorionic villi.

Published
1994

2. [Expression of lysosomal enzymes in pregnancy]

Author

T V, Mirenburg, K G, Krasnopol'skaia, S S, Gargaun, and A N, Chebotarev

Subjects
Lysosomal Storage Diseases, Pregnancy, Prenatal Diagnosis, Leukocytes, Humans, Female, Lysosomes, Enzymes
Abstract

Activities of 6 lysosomal enzymes in leukocytes and 3 enzymes in blood serum were studied in pregnant women. Only activity of beta-D-glucosidase was not altered within all the pregnancy of I-III trimesters, while activity of all the other enzymes studied was distinctly increased to the third trimester. Use of the data obtained in prenatal diagnosis of lysosomal storage diseases is discussed.

Published
1995

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