Gaucher Disease Type 1, A Rare Disease: A Single Center-Experience

Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to be very effective in reversing the risk of hepato-splenomegaly, cytopenia, osteopenia and reducing the risk of avasculer osteo necrosis, especially in children and young adults. The aim of this study i...

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Bibliographic Details
Published in:Journal of Contemporary Medicine
Main Authors: Ayşe Selimoğlu, Bengü Macit, Fatma İlknur Varol, Şükrü Güngör
Format: Article
Language:English
Published: Rabia Yılmaz 2021-03-01
Subjects:
rare diseases
lysosomal storage disease
gaucher disease
glucocerebrosidase
nadir hastalıklar
lizozomal depo hastalığı
gaucher hastalığı
glukoserebrosidaz
Online Access:https://dergipark.org.tr/tr/download/article-file/1335131

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https://dergipark.org.tr/tr/download/article-file/1335131

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