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Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 2017, Volume 108, pp. 86 - 94
Journal Article
Texas Heart Institute Journal, ISSN 0730-2347, 2014, Volume 41, Issue 3, pp. 332 - 334
Danon disease is a rare, codominant X-linked genetic disorder characterized by the triad of left ventricular hypertrophy, mental retardation, and peripheral... 
Glycogen storage cardio-myopathy | Left ventricular hypertrophy/ etiology | Hypertrophic cardiomyopathy/diagnosis | Male | Defibrillators, implantable | Glycogen storage disease type iib/ diagnosis | Lysosomal storage diseases/genetics/pathology | Membrane glycoproteins/deficiency | Lysosome-associated membrane glycoproteins | Magnetic resonance imaging | Cardiomyopa-thy, hypertrophic/diagnosis | Young adult | Sarcomeres | Cardiomyopathy, hypertrophic/diagnosis | magnetic resonance imaging | CARDIAC & CARDIOVASCULAR SYSTEMS | glycogen storage cardiomyopathy | lysosomal storage diseases/genetics/pathology | membrane glycoproteins/deficiency | young adult | glycogen storage disease type IIb/diagnosis | lysosome-associated membrane glycoproteins | sarcomeres | defibrillators, implantable | left ventricular hypertrophy/etiology | HYPERTROPHIC CARDIOMYOPATHY | hypertrophic cardiomyopathy/diagnosis | male | Glycogen Storage Disease Type IIb - genetics | Predictive Value of Tests | Genetic Predisposition to Disease | Humans | Hypertrophy, Left Ventricular - etiology | Lysosomal-Associated Membrane Protein 2 - genetics | Hypertrophy, Left Ventricular - diagnosis | Death, Sudden, Cardiac - prevention & control | Glycogen Storage Disease Type IIb - complications | Death, Sudden, Cardiac - etiology | Asymptomatic Diseases | Glycogen Storage Disease Type IIb - therapy | Young Adult | Magnetic Resonance Imaging | Hypertrophy, Left Ventricular - therapy | Phenotype | Electric Countershock - instrumentation | DNA Mutational Analysis | Defibrillators, Implantable | Electrocardiography | Glycogen Storage Disease Type IIb - diagnosis | Mutation | Index Medicus
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, Issue 12, pp. 890 - 894
Journal Article
Journal Article
Gene, ISSN 0378-1119, 05/2012, Volume 498, Issue 2, pp. 183 - 195
Danon disease (DD) is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and variable degrees of intellectual disability. DD... 
White blood cells | Danon disease | Lysosomal-associated membrane protein 2 | Cardiomyopathy | Polychromatic flow cytometry | X-chromosome inactivation | PROTEIN LAMP-2 | CHAPERONE-MEDIATED AUTOPHAGY | LYSOSOMAL MEMBRANE-GLYCOPROTEINS | CLASS-II PRESENTATION | HYPERTROPHIC CARDIOMYOPATHY | GLYCOGEN-STORAGE-DISEASE | MULTIPLE TISSUES | GENETICS & HEREDITY | CLINICAL INVOLVEMENT | FLOW-CYTOMETRY | Glycogen Storage Disease Type IIb - genetics | Cardiomyopathy, Hypertrophic - genetics | Flow Cytometry - methods | CD8-Positive T-Lymphocytes - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | Humans | CD4-Positive T-Lymphocytes - metabolism | Glycogen Storage Disease Type IIb - blood | Male | Leukocytes | Glycogen Storage Disease Type IIb - pathology | Myocardium - metabolism | CD8-Positive T-Lymphocytes - metabolism | Lysosome-Associated Membrane Glycoproteins - genetics | Adult | Female | Heterozygote | Lysosome-Associated Membrane Glycoproteins - deficiency | Glycogen Storage Disease Type IIb - diagnosis | Protein Processing, Post-Translational | Mutation | Lysosomal-Associated Membrane Protein 2 | Cardiomyopathy, Hypertrophic - pathology | Fibroblasts - metabolism | Immunohistochemistry | Messenger RNA | RNA | Lymphocytes | Genes | Genetic research | Fluorescence | Genetic aspects | T cells | Cells | Index Medicus
Journal Article
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 5/2012, Volume 250, Issue 5, pp. 633 - 633
Journal Article
Journal Article