Zobrazeno 1 - 10
of 204
pro vyhledávání: '"S, Yatziv"'
Autor:
S. Yatziv, A. Russell
Publikováno v:
Clinical Genetics. 19:222-227
An unusual form of Metachromatic Leukodystrophy (MLD) has been described in three siblings who are the sole children of related parents of Iranian origin. Clinical progression in the three siblings was insidious and protracted, the hallmark of the co
A physiological role for glycosidases in cell membranes has been suggested. Therefore the activities of four glycosidases—β-galactosidase, β-glucoronidase, N-acetyl-β-giucosaminidase and acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63d9b5a09e62e3fdf615c6b83c3b5099
https://doi.org/10.1159/000403115
https://doi.org/10.1159/000403115
Publikováno v:
International Hepatology Communications. 3:97-104
Correction of enzyme activity was successfully accomplished in β-glucuronidase deficient C3H/HeJ mice after intrasplenic transplantation of isolated hepatocytes obtained from normal Balb/C donors mice. Enzyme activity increased from a mean of 1.1 ±
Publikováno v:
Journal of Gastroenterology and Hepatology. 8:60-62
Homocystinuria is frequently associated with severe multisystem involvement such as dislocated lenses, skeletal deformities, mental retardation and premature vascular occlusions. Surprisingly, gastro-intestinal involvement has not been described in t
Publikováno v:
European journal of haematology. 66(5)
Patients with refractory autoimmune thrombocytopenia do not respond to standard therapy with high-dose corticosteroids, intravenous immunoglobulin, and splenectomy. We describe the cases of two patients with refractory autoimmune thrombocytopenia tre
Publikováno v:
European cytokine network. 10(2)
Gaucher's disease (GD) is characterized by hepatosplenomegaly, bone marrow infiltration, osteonecrosis, which may all be associated with the presence of pathological macrophages that contain undegraded glycosphingolipids. Levels of serum cytokines, w
Publikováno v:
American journal of medical genetics. 36(2)
We report on a patient with trisomy 18 syndrome and tetrasomy 18p. The case indicates that the presence of an isochromosome i(18p) can mimic complete trisomy 18 syndrome.
Publikováno v:
Cellular and molecular biology. 36(6)
The turnover of proteoglycans in the extracellular matrix was studied in fibroblasts cultures derived from patients with mucopolysaccharidosis (MPS) and healthy donors. The cells were labelled with 35S-sulfate and 14C-glucosamine and it was found tha
Publikováno v:
Journal of Medical Virology. 6:165-168
Etiological relationship between a bovine strain of parainfluenza virus type 3 and pneumonia in a child is suggested. Haemagglutination inhibition tests have clearly demonstrated that specific antibodies against the bovine virus were present in the p
Publikováno v:
Thrombosis and Haemostasis. 32:665-669
SummaryFive platelet lysosomal enzyme activities were estimated in 22 normal individuals and in 5 patients with Gaucher’s disease: ß-D-galactosidase, N-Acetyl-ß-D-glucosa-minidase, N-Acetyl-ß-D-galactosaminidase acid-phosphatase, and ß-D-glucur