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Revista Romana de Medicina de Laborator
Volume 25 (2017): Issue 3 (July 2017)
Open Access
Laboratory diagnosis and follow-up of Romanian Gaucher disease patients
Cristina Drugan
Cristina Drugan
,
Tudor Drugan
Tudor Drugan
,
Catherine Caillaud
Catherine Caillaud
,
Paula Grigorescu-Sido
Paula Grigorescu-Sido
,
Tiberiu Nistor
Tiberiu Nistor
and
Alexandra M. Crăciun
Alexandra M. Crăciun
| Aug 01, 2017
Revista Romana de Medicina de Laborator
Volume 25 (2017): Issue 3 (July 2017)
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Article Category:
Original Research
Published Online:
Aug 01, 2017
Page range:
275 - 285
Received:
Feb 26, 2017
Accepted:
May 03, 2017
DOI:
https://doi.org/10.1515/rrlm-2017-0018
Keywords
Gaucher disease
,
genotype-phenotype correlations
,
chitotriosidase
,
enzyme replacement therapy
,
Romanian population
© by Tudor Drugan
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.
Cristina Drugan
Department of Medical Biochemistry, „Iuliu Haţieganu“ University of Medicine and Pharmacy,
Cluj-Napoca, Romania
Tudor Drugan
Department of Medical Informatics and Biostatistics, „Iuliu Haţieganu“ University of Medicine and Pharmacy,
Cluj-Napoca, Romania
Catherine Caillaud
Laboratoire de Biochimie, Métabolomique et Protéomique, Hôpital Necker‐Enfants Malades, University Paris
Descartes, France
Paula Grigorescu-Sido
Department of Paediatrics I, „Iuliu Haţieganu“ University of Medicine and Pharmacy,
Cluj-Napoca, Romania
Tiberiu Nistor
Department of Medical Biochemistry, „Iuliu Haţieganu“ University of Medicine and Pharmacy,
Cluj-Napoca, Romania
Alexandra M. Crăciun
Department of Medical Biochemistry, „Iuliu Haţieganu” University of Medicine and Pharmacy,
Cluj-Napoca, Romania