Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature.
نویسندگان
چکیده
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly improved with ERT.
منابع مشابه
Report of Four Children with Gaucher Disease and Review of Literature
Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...
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ورودعنوان ژورنال:
- Turkish journal of haematology : official journal of Turkish Society of Haematology
دوره 27 3 شماره
صفحات -
تاریخ انتشار 2010