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Title Metabolic cardiomyopathy / edited by H. Böhles and A.C. Sewell ; with contributions by M. Beck ... [and others].

Published Stuttgart : Medpharm Scientific Publishers, 2004.

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Location Call No. Status
 UniM BioMed ST  616.124 META    AVAILABLE
Edition 2nd rev. ed.
Physical description 166 pages : illustrations ; 24 cm
Contents 1 Morphological presentation of cardiomyopathy / G. Mall 1 -- 1.2 Differential diagnosis of hypertrophic cardiomyopathy 1 -- 1.3 Differential diagnosis of dilated cardiomyopathy 4 -- 2 Possibilities and frontiers of myocardial biopsy in childhood / A. A. Schmaltz 11 -- 2.1 Biopsy techniques 11 -- 2.2 Histopathological diagnostics 12 -- 2.3 Indication 13 -- 2.4 Success rate and complications 14 -- 3 Disturbances of the carnitine system as a cause of cardiomyopathy / H. Bohles 17 -- 3.1 Developmental aspects of myocardial energy metabolism 17 -- 3.2 Carnitine plasma membrane transport 17 -- 3.3 Myocardial fatty acid oxidation 18 -- 3.4 Carnitine plasma membrane transport defect (systemic carnitine deficiency) 18 -- 3.5 Carnitine palmitoyltransferase (CPT) system 19 -- 4 Defects in long-chain fatty acid oxidation as a cause of cardiomyopathy / H. Przyrembel, A. C. Sewell 25 -- 4.1 Long-chain acyl-CoA dehydrogenase (LCAD) deficiency 29 -- 4.2 3-Hydroxyl-CoA dehydrogenase (LCHAD) deficiency 29 -- 4.3 2, 4 Dienoyl reductase deficiency 30 -- 4.4 Trifunctional protein deficiency 31 -- 4.5 Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency 31 -- 4.6 Long-chain 3-ketothiolase deficiency 31 -- 5 Cardiomyopathy in [beta]-ketothiolase deficiency / V. Hesse, A. C. Sewell, H. Bohles, H. Haberland, B. Middleton, B. Fielder, H. Forster, W. Janisch 35 -- 5.1 Case report 37 -- 6 Cardiac involvement in glycogen storage diseases / R. Santer, K. Ullrich 47 -- 6.1 Biochemical bases 47 -- 6.2 Clinical aspects 52 -- 7 Cardiomyopathies and mitochondrial defects of oxidative energy metabolism / W. Sperl 67 -- 7.1 Characteristics of the oxidative phosphorylating system 68 -- 7.2 Aging presbycardia 69 -- 7.3 Cardiomyopathies as a consequence of a secondary damage of the OXPHOS system (secondary mitochondrial cardiomyopathy) 70 -- 7.4 Primary mitochondrial cardiomyopathies 71 -- 7.5 Classification of mitochondrial cardiomyopathies 73 -- 7.6 Disturbances of cardiac rhythm in defects of the OXPHOS system 76 -- 7.7 Frequency of cardiac involvement in mitochondrial (encephalo-) myopathies 77 -- 7.8 Diagnosis of mitochondrial cardiomyopathies 77 -- 7.9 Therapy 79 -- 8 Pericardial effusion refractive to therapy in an infant with the carbohydrate-deficient glycoprotein syndrome / W. Kienast, F. Walter, K. Heyne 85 -- 9 Cardiomyopathy in congenital disorders of glycosylation (CDG) / J. Gehrmann, H. Bohles, T. Marquardt 87 -- 9.2 Case reports 88 -- 10 Cardiovascular changes in the mucopolysaccharidoses / C.-F. Wippermann, M. Beck, D. Schranz, R. Huth, I. Michel-Behnke, B.-K. Jungst 99 -- 10.1 Changes of the coronary arteries 100 -- 10.2 Alterations of other arterial vessels 102 -- 10.3 Arterial hypertension 102 -- 10.4 Myocardial changes 103 -- 10.5 Changes in the conduction system 104 -- 10.6 Alterations of the heart valves 105 -- 10.7 Therapeutical influence on the cardiovascular alterations 109 -- 10.8 Mortality as a consequence of cardiovascular causes 110 -- 11 Cardiovascular involvement in Gaucher disease / E. Mengel 113 -- 11.2 Heart 114 -- 11.3 Cor pulmonale 115 -- 12 Selenium deficiency in children with cystic fibrosis and phenylketonuria-metabolic and echocardiographic findings during sodium selenite therapy / E. Kauf, L. Vogt, J. Seidel, K. Winnefeld, H. Richter, H. Vogl, H. Dawczynski, A. Forberger, D. Schlenvoigt 117 -- 12.1 Patients and methods 117 -- 13 Fabry disease--a progressive multisystemic lysosomal storage disorder / M. Beck 123 -- 13.1 Pathophysiology 123 -- 13.2 Symptoms 124 -- 13.3 Genetics 127 -- 13.4 Treatment 127 -- 14 Anderson-Fabry disease associated cardiomypathy / C. Kampmann 133 -- 14.2 Cardiac manifestation 134 -- 14.3 "Cardiac variant" of AFD 144 -- 14.4 Gender related differences 144 -- 14.5 Onset and progression of the cardiomyopathy 145 -- 14.6 Clinical features of cardiac involvement 146 -- 14.7 Cardiac involvement in children with AFD 146 -- 14.8 Natural history and death 146 -- 14.9 Treatment 147 -- 15 Laboratory diagnosis of metabolic diseases presenting with cardiomyopathy / A. C. Sewell 153 -- 15.1 Defects in mitochondrial long-chain fatty acid oxidation 153 -- 15.2 Defects in carnitine metabolism 154 -- 15.3 Disorders of the respiratory chain 155 -- 15.4 Disorders of complex carbohydrate metabolism 155 -- 15.5 Organoacidopathies 157 -- 15.6 Others 157.
Other author Böhles, H.
Sewell, A. C.
Subject Myocardium -- Diseases.
Cardiovascular system -- Diseases.
Heart -- Hypertrophy.
Heart -- Metabolism -- Disorders.
ISBN 3887631048 : $79.95