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Current Genetic Medicine Reports, ISSN 2167-4876, 6/2018, Volume 6, Issue 2, pp. 28 - 42
The lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal enzymes affecting... 
Heart | Medicine & Public Health | Cardiomyopathy | Cardiac | Genetic | Internal Medicine | Lysosomal storage diseases | Fetal hydrops
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S23 - S23
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 165, Issue 3, pp. 490 - 496.e8
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1219 - 1225
Journal Article
Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A16994 - A16994
BackgroundFew data exist regarding predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome (MFS).ObjectivesTo identify... 
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 10, pp. 860 - 867
Journal Article
Journal of Inborn Errors of Metabolism and Screening, ISSN 2326-4098, 5/2017, Volume 5, p. 232640981770777
Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We... 
Journal Article
American Heart Journal, ISSN 0002-8703, 2013, Volume 165, Issue 5, pp. 828 - 835.e3
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2014, Volume 371, Issue 22, pp. 2061 - 2071
Journal Article