Verfügbarkeit: Pompe disease

Pompe disease:

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Bibliographische Detailangaben
Hauptverfasser:	Baethmann, Martina 1963- (VerfasserIn), Straub, Volker (VerfasserIn), Reuser, Arnold J. J. (VerfasserIn)
Format:	Buch
Sprache:	English
Veröffentlicht:	Bremen ; London ; Boston UNI-MED Verlag AG 2014
Ausgabe:	2nd edition
Schriftenreihe:	UNI-MED science
Schlagworte:	Glykogenose Typ 2
Online-Zugang:	Inhaltsverzeichnis Pompe disease Inhaltsverzeichnis
Beschreibung:	Literaturangaben
Beschreibung:	127 Seiten Illustrationen
ISBN:	9783837413977

Internformat

MARC


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Datensatz im Suchindex

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adam_text	CONTENTS 7 CONTENTS H INTRODUCTION 10 1.1. HISTORY 10 1.2. EPIDEMIOLOGY 13 M FROM MOLECULAR DEFECT TO CLINICAL SYMPTOMS 16 2.1. BIOSYNTHESIS OF ACID A-GLUCOSIDASE 16 2.2. CELLULAR PATHOLOGY 19 2.3. THE GENOTYPE-PHENOTYPE CORRELATION 20 2.3.1. IN THEORY 20 2.3.2. IN PRACTICE 22 AUTOPHAGY AND ITS ROLE IN THE PATHOGENESIS OF POMPE DISEASE 30 3.1. AUTOPHAGY: BACKGROUND 30 3.2. AUTOPHAGY IN POMPE DISEASE 32 3.2.1. STUDIES IN KNOCKOUT MOUSE MODELS 32 3.2.2. STUDIES IN POMPE PATIENTS 34 M CLINICAL SPECTRUM OF POMPE DISEASE 40 4.1. CLASSIC INFANTILE POMPE DISEASE 40 4.1.1. FIRST SYMPTOMS AND DISEASE PROGRESSION 42 4.1.2. PHYSICAL FINDINGS 43 4.1.3. MOTOR DEVELOPMENT 43 4.2. NON-CLASSIC INFANTILE POMPE DISEASE 43 4.3. CHILDHOOD POMPE DISEASE 46 4.3.1. CONSIDERATIONS OF THE NOMENCLATURE 46 4.3.2. THE CLINICAL PHENOTYPE 46 4.4. ADULT POMPE DISEASE 49 4.4.1. SYMPTOMS OF ADOLESCENTS AND ADULTS 49 4.4.2. CLINICAL FINDINGS 54 4.4.3. MEASUREMENTS OF DISEASE BURDEN AND MUSCLE FUNCTION 58 H DIAGNOSIS 64 5.1. CLINICAL CHEMISTRY 64 5.2. IMAGING PROCEDURES 65 5.2.1. X-RAY EXAMINATIONS 65 5.2.2. SONOGRAPHY 66 5.2.3. MAGNETIC RESONANCE IMAGING 66 5.3. EXAMINATION OF CARDIAC FUNCTION 67 5.4. EXAMINATION OF PULMONARY FUNCTION 67 5.5. ELECTROMYOGRAPHIC EXAMINATION 68 5.6. MUSCLE BIOPSY 68 5.7. MEASUREMENT OF ENZYME ACTIVITY 70 5.8. MUTATION ANALYSIS 71 5.9. PRENATAL DIAGNOSTICS 72 HTTP://D-NB.INFO/1056899948 8 CONTENTS H PRENATAL DIAGNOSIS 76 6.1. ROUTINE PROCEDURES 76 6.2. UNCOMMON SITUATIONS 76 H DIFFERENTIAL DIAGNOSIS OF POMPE DISEASE 82 7.1. DIFFERENTIAL DIAGNOSIS OF CLASSIC INFANTILE POMPE DISEASE 82 7.2. DIFFERENTIAL DIAGNOSIS OF POMPE DISEASE IN CHILDREN WITH NON-CLASSIC PHENOTYPES 84 7.3. DIFFERENTIAL DIAGNOSIS OF POMPE DISEASE IN ADULTS 86 7.4. HIGH RISK POPULATIONS FOR ADULT POMPE DISEASE 87 P\| RESPIRATORY INSUFFICIENCY IN POMPE DISEASE 92 8.1. SPECIFIC ASPECTS OF WEAKNESS OF THE RESPIRATORY MUSCLE SYSTEM IN POMPE DISEASE 92 8.1.1. CLASSIC INFANTILE POMPE DISEASE 92 8.1.2. WEAKNESS OF THE DIAPHRAGM AS A CHARACTERISTIC SYMPTOM IN ADOLESCENCE AND ADULTHOOD 92 8.1.3. CONSEQUENCES OF RESPIRATORY MUSCLE WEAKNESS FOR PULMONARY GAS EXCHANGE DURING SLEEP AND WHEN AWAKE 93 8.1.4. THE COURSE OF RESPIRATORY MUSCLE WEAKNESS 93 8.2. EVALUATION OF WEAKNESS IN THE RESPIRATORY MUSCLE SYSTEM 94 8.2.1. PULMONARY FUNCTION 94 8.2.2. RESPIRATORY MUSCLE FUNCTION 94 8.2.3. POLYSOMNOGRAPHY 95 8.3. MANAGEMENT OF RESPIRATORY INSUFFICIENCY 95 8.3.1. NON-INVASIVE VENTILATION 95 8.3.2. COUGH AUGMENTATION TECHNIQUES 96 8.3.3. RESPIRATORY FUNCTION UNDER ENZYME REPLACEMENT THERAPY AND NEW INSIGHTS TO GENE THERAPY... 96 M ENZYME REPLACEMENT THERAPY IN POMPE DISEASE 100 9.1. SCIENTIFIC DEVELOPMENTS 100 9.2. REGISTRATION OF ENZYME REPLACEMENT THERAPY FOR POMPE DISEASE 100 9.3. THE MECHANISMS AND REALIZATION OF ENZYME REPLACEMENT THERAPY FOR POMPE DISEASE * 101 9.4. ENZYME REPLACEMENT THERAPY IN INFANTS 101 9.5. ENZYME REPLACEMENT THERAPY IN CHILDREN AND ADULTS 105 9.6. PROSPECTS 108 PHYSIOTHERAPY AND EXERCISE TRAINING IN POMPE DISEASE 114 10.1. PUBLISHED EVIDENCE ON EXERCISE TRAINING 114 10.2. MANAGEMENT OF SEVERELY AFFECTED INFANTS AND CHILDREN 115 10.3. MANAGEMENT OF ADOLESCENTS AND ADULTS 115 10.4. ALTERNATIVE APPROACHES TO PHYSIOTHERAPY MANAGEMENT 116 10.5. MEASURING PROGRESSION AND CHANGE IN POMPE DISEASE 116 ^ DIETARY ASPECTS OF POMPE DISEASE 120 11.1. DIET IN POMPE DISEASE 120 11.2. L-ALANINE IN POMPE DISEASE 121 11.3. DIETARY SUGGESTIONS FOR POMPE PATIENTS 121 11.4. PERSPECTIVES 121 H PATIENT SUPPORT GROUPS 124 INDEX 127
any_adam_object	1
author	Baethmann, Martina 1963- Straub, Volker Reuser, Arnold J. J.
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dewey-tens	610 - Medicine and health
discipline	Medizin
edition	2nd edition
format	Book
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subject_GND	(DE-588)4157737-1 (DE-588)4326601-0
title	Pompe disease
title_auth	Pompe disease
title_exact_search	Pompe disease
title_full	Pompe disease Martina Baethmann, Volker Straub, Arnold J.J. Reuser in collaboration with Olaf A. Bodamer [und 9 weiteren]
title_fullStr	Pompe disease Martina Baethmann, Volker Straub, Arnold J.J. Reuser in collaboration with Olaf A. Bodamer [und 9 weiteren]
title_full_unstemmed	Pompe disease Martina Baethmann, Volker Straub, Arnold J.J. Reuser in collaboration with Olaf A. Bodamer [und 9 weiteren]
title_short	Pompe disease
title_sort	pompe disease
topic	Glykogenose (DE-588)4157737-1 gnd Typ 2 (DE-588)4326601-0 gnd
topic_facet	Glykogenose Typ 2
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