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Keynote webinar | Spotlight on medication adherence

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Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
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Annals of Hematology
Published in: Annals of Hematology 10/2014

Open Access 01-10-2014 | Letter to the Editor

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Authors: Maciej Machaczka, Monika Klimkowska

Published in: Annals of Hematology | Issue 10/2014

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Excerpt

Dear Editor, …
Literature
1.
2.
Lachmann RH, Grant IR, Halsall D, Cox TM (2004) Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med 97(4):199–204CrossRef
3.
Machaczka M, Klimkowska M, Hägglund H (2009) Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman. J Inherit Metab Dis 32(6):758–761PubMedCrossRef
4.
Machaczka M, Lerner R, Klimkowska M, Hägglund H (2009) Treatment of multiple myeloma in patients with Gaucher disease. Am J Hematol 84(10):694–696PubMedCrossRef
5.
Mistry PK, Sadan S, Yang R, Yee J, Yang M (2007) Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol 82(8):697–701PubMedCrossRef
Metadata
Title
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
Authors
Maciej Machaczka
Monika Klimkowska
Publication date
01-10-2014
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 10/2014
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-014-2036-x

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Keynote webinar | Spotlight on medication adherence

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WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

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