Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Background: Gaucher disease (GD) is caused by a recessively inherited deficiency of glucocerebrosidase which is encoded by the GBA gene in which nearly 450 mutations have been described. However, only a few genotype- phenotype correlations have been clearly established. The aim of this study was to...

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Bibliographic Details
Main Authors: Drugan Cristina, Drugan Tudor, Caillaud Catherine, Grigorescu-Sido Paula, Nistor Tiberiu, Crăciun Alexandra M.
Format: Article
Language:English
Published: Sciendo 2017-07-01
Series:Romanian Journal of Laboratory Medicine
Subjects:
gaucher disease
genotype-phenotype correlations
chitotriosidase
enzyme replacement therapy
romanian population
Online Access:https://doi.org/10.1515/rrlm-2017-0018

Internet

https://doi.org/10.1515/rrlm-2017-0018

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