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2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | neuroscience | Lysosomal storage disorders - Treatment
Book
2007, ISBN 9780387709093, xix, 562
This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. This is an invaluable resource... 
Lysosomal storage diseases | Biology, life sciences | Metabolism, Inborn errors of | Human Genetics | Biochemistry, general | Biomedicine | Epidemiology | Cell Biology
Book
2010, ISBN 9789814271318, xviii, 160
Book
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 11/2018, Volume 72, Issue 20, pp. 2485 - 2506
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm... 
arrhythmias | dystrophy | skeletal muscle | myopathy | cardiomyopathies | CARDIAC & CARDIOVASCULAR SYSTEMS | RESTRICTIVE CARDIOMYOPATHY | FRIEDREICHS-ATAXIA | CLINICAL SPECTRUM | BARTH-SYNDROME | LINKED DILATED CARDIOMYOPATHY | LIMB-GIRDLE | LEFT-VENTRICULAR NONCOMPACTION | DIAGNOSTIC WORK-UP | HYPERTROPHIC CARDIOMYOPATHY | DUCHENNE MUSCULAR-DYSTROPHY | Glycogen Storage Disease Type II - genetics | Muscular Diseases - epidemiology | Humans | Muscular Dystrophy, Duchenne - epidemiology | Glycogen Storage Disease Type II - diagnostic imaging | Muscular Dystrophies - genetics | Muscular Dystrophy, Duchenne - diagnostic imaging | Phenotype | Heart Diseases - epidemiology | Muscular Dystrophies - epidemiology | Pedigree | Review Literature as Topic | Glycogen Storage Disease Type II - epidemiology | Heart Diseases - diagnostic imaging | Muscular Diseases - genetics | Muscular Dystrophies - diagnostic imaging | Muscular Dystrophy, Duchenne - genetics | Heart Diseases - genetics | Muscular Diseases - diagnostic imaging | Heart | Arrhythmia | Creatine kinase | Glycogen | Muscles | Genetic aspects | Lactic acid | Cardiology | Creatine | Fatty acids | Genetic screening | Pediatrics | Conduction | Cardiac arrhythmia | Disease | Muscular diseases | Cardiomyopathy | Disorders | Kinases | Muscular dystrophy | Defects | Eutrophication | Genotype & phenotype | Mitochondria | Glycogenosis | Ataxia | Oxidation | Bioindicators | Heart diseases | Age | Heart failure | Phenotypes | Neuromuscular diseases | Genetic disorders | Cardiac muscle | Patients | Coronary artery disease | Skeletal muscle | Diseases | Storage diseases | Friedreich's ataxia | Musculoskeletal system | Medical prognosis | Family studies | Biomarkers | Ventricle | Mutation
Journal Article
Haematologica, ISSN 0390-6078, 03/2007, Volume 92, Issue 3, pp. 357 - 365
Departments of Clinical Laboratory (TQ, MG); Hematology-Oncology (OP, EA, CM, SB, BM, PZ, JP, DM) School of Medicine, Pontificia Universidad Católica de Chile... 
Mucous and skin bleeding | Relative frequency of disorders of primary hemostasis | Diagnosis of inherited disorders of primary hemostasis | Platelet function study | Bleeding of unknown cause | Mild bleeding disorders | STORAGE POOL DEFICIENCY | DIAGNOSIS | bleeding of unknown cause | diagnosis of inherited disorders of primary hemostasis | PLATELET-FUNCTION | DISORDERS | mild bleeding disorders | TIME | mucous and skin bleeding | VON-WILLEBRAND-DISEASE | BRUISING SYMPTOMATOLOGY | FACTOR-XI | platelet function study | relative frequency of disorders of primary hemostasis | TYPE-1 | HEMATOLOGY | ABO BLOOD-GROUP | Medical History Taking | Predictive Value of Tests | Prevalence | Prospective Studies | Humans | Middle Aged | Child, Preschool | Hemorrhagic Disorders - blood | Male | von Willebrand Diseases - complications | Blood Platelet Disorders - complications | Hemorrhagic Disorders - genetics | Bleeding Time | Child | Platelet Function Tests - methods | Signal Transduction | Coagulation Protein Disorders - blood | Hemorrhage - blood | Coagulation Protein Disorders - complications | Phenotype | Case Management | Blood Platelets - metabolism | Spain - epidemiology | Adolescent | Platelet Function Tests - instrumentation | Hemorrhagic Disorders - diagnosis | Hemorrhagic Disorders - epidemiology | von Willebrand Diseases - blood | von Willebrand Diseases - epidemiology | Mucous Membrane | Blood Platelet Disorders - blood | Case-Control Studies | Hemorrhagic Disorders - complications | Hemorrhage - etiology | Adult | Female | Surveys and Questionnaires | von Willebrand Diseases - classification | Blood Platelets - drug effects | Severity of Illness Index | Blood Platelet Disorders - epidemiology | Coagulation Protein Disorders - epidemiology | von Willebrand Diseases - diagnosis | Blood Platelet Disorders - diagnosis | Skin Diseases - etiology | Serotonin - metabolism | Coagulation Protein Disorders - diagnosis | Epinephrine - pharmacology | Hemoglobins - analysis
Journal Article
Journal Article
AUTOPHAGY, ISSN 1554-8627, 05/2012, Volume 8, Issue 5, pp. 719 - 730
Journal Article