Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature.
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.
Gökhan
G
Kabaçam
Gülşah
G
Kabaçam
Pervin
P
Topçuoğlu
Işınsu
I
Kuzu
Şisli Florence Nightingale Hospital Hematopoietic Stem Cell Transplantation Unit, Abide-i Hürriyet Cad. No:164 Şişli, İstanbul, Turkey, Phone: +90 212 315 36 44 E-mail: mutlu.arat@florence.com.tr.
Mutlu
M
Arat