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Hepatology (Baltimore, Md.), ISSN 0270-9139, 06/2019
The clinical relevance of the Human Genome Project and next generation sequencing technology was demonstrated for the first time in 2009, when whole-exome... 
Journal Article
Journal of Hepatology, ISSN 0168-8278, 10/2019, Volume 71, Issue 4, pp. 850 - 851
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 10/2017, Volume 37, Issue 40, pp. 9617 - 9631
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 07/2019
In Gaucher disease, several macrophage-specific biomarkers have been validated for use in the clinic. However, Gaucher disease is more complex involving... 
Journal Article
Clinical Advances in Hematology and Oncology, ISSN 1543-0790, 06/2012, Volume 10, Issue 6, pp. 7 - 9
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 03/2018, Volume 69, pp. 117 - 118
Journal Article
Critical Reviews in Oncogenesis, ISSN 0893-9675, 2013, Volume 18, Issue 3, pp. 235 - 246
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 07/2016, Volume 91, Issue 7, pp. 736 - 741
Journal Article
American Journal of Hematology, ISSN 0361-8609, 07/2015, Volume 90, Issue 1, pp. S6 - S11
Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that exhibits diverse manifestations, a broad range of age of onset of... 
BONE-DISEASE | DIAGNOSIS | GLUCOCEREBROSIDASE | GENE | REVISED RECOMMENDATIONS | PHENOTYPE | SEVERITY SCORING SYSTEM | TYPE-1 | HEMATOLOGY | ENZYME REPLACEMENT THERAPY | CHILDREN | Registries | Gaucher Disease - pathology | Humans | Gaucher Disease - drug therapy
Journal Article
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 2015, Volume 148, Issue 4, pp. S-997 - S-997
Journal Article