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- W2053451611 abstract "Title: Type 1 Gaucher disease: 10 years of experience in enzyme replacement therapy. Gaucher disease is an inherited lysosomal storage disorder caused by a defect in the gene encoding the enzyme acid βglucosidase. This deficiency causes the accumulation of glucocerebrosides in the lysosomes of visceral macrophages, leading to the clinical manifestations of this disease. The most prevalent form of Gaucher disease is type 1 or the non-neuronopathic variant, which is characterized by clinical features such as hepatosplenomegaly, anemia, thrombocytopenia and bone disease. The prognosis associated with this disorder was especially poor when the only available therapeutic options were splenectomy and bone marrow transplantation. Gaucher disease was the first lysosomal storage disorder in which enzyme replacement therapy was employed. Over the last decade, this treatment has proven both safe and highly efficacious, leading to an improvement in the quality of life of patients and a decreased morbidity and mortality. We report the satisfactory clinical courses of four patients, two of them treated since 1995, after undergoing enzyme replacement therapy. Three of these patients have normal clinical, radiological and hematological parameters. In the fourth patient, who presents a concomitant hemoglobinopathy, the need for red cell transfusions has decreased. None of these patients have experienced adverse events related to enzyme replacement therapy." @default.
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- W2053451611 date "2005-01-01" @default.
- W2053451611 modified "2023-10-07" @default.
- W2053451611 title "Enfermedad de Gaucher tipo I: diez años de experiencia en el tratamiento enzimático sustitutivo" @default.
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