Now showing items 11-20 of 77
Gaucher disease: a case studyEnfermedad de Gaucher: estudio de caso
(Facultad de Medicina, 2017)
Non-immune Hydrops Fetalis: A Prospective Study of 53 Cases
New mutations in the GLA gene in Brazilian families with Fabry disease
(NATURE PUBLISHING GROUPNEW YORK, 2012-06)
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the ...
Swainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina
(Pergamon-Elsevier Science Ltd, 2017-03)
There are numerous poisonous plants that can induce intralysosomal accumulation of glycoproteins and neurologic syndromes. Here we describe for the first time, a disease caused by ingesting Sida rodrigoi Monteiro in goats ...
Generation of Polyclonal Antibodies Against Recombinant Human Glucocerebrosidase Produced in Escherichia coli
(HUMANA PRESS INC, 2010)
Deficiency of the lysosomal glucocerebrosidase (GCR) enzyme results in Gaucher`s disease, the most common inherited storage disorder. Treatment consists of enzyme replacement therapy by the administration of recombinant ...