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Hepatology, ISSN 0270-9139, 12/2019, Volume 70, Issue 6, pp. 2185 - 2192
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
Blood, ISSN 0006-4971, 11/2019, Volume 134, Issue Supplement_1, pp. 4859 - 4859
INTRODUCTION: Gaucher disease type 1 (GD1) is caused by hereditary deficiency in activity of lysosomal acid β-glucosidase and lysosomal dysfunction due to... 
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 2396 - 2396
Abstract Background: In Gaucher disease type 1 (GD1), deficient lysosomal acid β-glucosidase activity leads to accumulation of glucosylceramide and formation... 
Journal Article
The Journal of Neuroscience, ISSN 0270-6474, 10/2017, Volume 37, Issue 40, p. 9617
Glucocerebrosidase 1 (GBA) mutations responsible for Gaucher disease (GD) are the most common genetic risk factor for Parkinson's disease (PD). Although the... 
Brain | Parkinson's disease | Neurodegenerative diseases | Parkinsons disease | Health risks | Agglomeration | Sphingolipids | Synuclein | Risk analysis | Neurogenesis | Risk factors | Sphingosine 1-phosphate | Pathology | Glucosylceramidase | Mutation | Movement disorders | Gaucher's disease
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S129 - S129
Journal Article
Gastroenterology, ISSN 0016-5085, 2015, Volume 148, Issue 4, pp. S-997 - S-997
Journal Article
American Journal of Hematology, ISSN 0361-8609, 07/2016, Volume 91, Issue 7, pp. 736 - 741
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2019, Volume 20, p. 100490
Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme... 
Gaucher disease | Enzyme replacement therapy | Hepatopulmonary syndrome | Pulmonary complications | CELLS | PULMONARY-HYPERTENSION | DETERMINANTS | GENETICS & HEREDITY | PHENOTYPE | ASSOCIATION
Journal Article
Clinical Advances in Hematology and Oncology, ISSN 1543-0790, 06/2012, Volume 10, Issue 6, pp. 7 - 9
Journal Article
JOURNAL OF HEPATOLOGY, ISSN 0168-8278, 10/2019, Volume 71, Issue 4, pp. 850 - 851
Journal Article
Gastroenterology, ISSN 0016-5085, 2010, Volume 138, Issue 5, pp. S-807 - S-807
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2019, Volume 128, Issue 1-2, pp. 62 - 67
In Gaucher disease, several macrophage-specific biomarkers have been validated for use in the clinic. However, Gaucher disease is more complex involving... 
Biomarkers | Cathepsins | Gaucher disease | Progranulin | YKL-40
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 06/2012, Volume 109, Issue 25, p. 10018
Inherited deficiency of acid β-glucosidase (GCase) due to biallelic mutations in the GBA (glucosidase, β, acid) gene causes the classic manifestations of... 
Enzymes | Genetic disorders | Rodents | Stem cells | Bone marrow | T cell receptors | Mutation
Journal Article
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