ISBN: 3837411656
Gaucher disease is the most common lipid storage disorder. It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses.Considering the wide variab… mais…
Bides.de |
2009, ISBN: 3837411656
<-> Gaucher disease is the most common lipid storage disorder. It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses. As initial diagnosis … mais…
Bides.de |
ISBN: 3837411656
Gaucher disease is the most common lipid storage disorder. It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses. As initial diagnosis may b… mais…
Bides.de |
2009, ISBN: 9783837411652
[ED: Hardcover], [PU: Uni-Med Verlag Ag], [SC: 0.00]
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ISBN: 3837411656
Gaucher disease is the most common lipid storage disorder. It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses.Considering the wide variab… mais…
2009, ISBN: 3837411656
<-> Gaucher disease is the most common lipid storage disorder. It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses. As initial diagnosis … mais…
ISBN: 3837411656
Gaucher disease is the most common lipid storage disorder. It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses. As initial diagnosis may b… mais…
2009, ISBN: 9783837411652
[ED: Hardcover], [PU: Uni-Med Verlag Ag], [SC: 0.00]
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Dados detalhados do livro - Gaucher disease
EAN (ISBN-13): 9783837411652
ISBN (ISBN-10): 3837411656
Livro de capa dura
Ano de publicação: 2009
Editor/Editora: UNI-MED, BREMEN
Peso: 0,305 kg
Língua: Englisch
Livro na base de dados desde 2009-12-04T19:30:24+00:00 (Lisbon)
Página de detalhes modificada pela última vez em 2011-11-15T14:22:06+00:00 (Lisbon)
Número ISBN/EAN: 9783837411652
Número ISBN - Ortografia alternativa:
3-8374-1165-6, 978-3-8374-1165-2
Ortografia alternativa e termos de pesquisa relacionados:
Autor do livro: gaucher, niederau
Título do livro: gaucher
Dados da editora
Autor: Claus Niederau
Título: UNI-MED Science; Gaucher Disease
Editora: UNI-MED
88 Páginas
Ano de publicação: 2009-12-04
DE
Língua: Inglês
29,80 € (DE)
30,70 € (AT)
50,50 CHF (CH)
Not available (reason unspecified)
BB; GB; Hardcover, Softcover / Medizin/Klinische Fächer; Klinische und Innere Medizin; Medizin, Gesundheit; EA
1. Introduction 8 2. Clinical aspects 10 2.1. Classification 10 2.1.1. Non-neuronopathic form of Gaucher disease 10 2.1.2. Neuronopathic forms of Gaucher disease 11 2.2. Definitions and history 12 2.3. Aetiology and pathogenesis 13 2.4. Epidemiology 15 2.5. Natural course and prognosis 16 2.6. Classification of severity 18 3. Diagnostics 22 3.1. General symptoms 22 3.2. Medical history and clinical findings 22 3.3. Laboratory 24 3.4. Diagnostic procedures 25 3.5. Acute neuronopathic form (infantile form, type 2) 27 3.6. Enzyme measurement 28 3.7. Molecular genetic diagnosis 29 3.8. Bone manifestations in Gaucher disease 30 3.8.1. Introduction 30 3.8.2. Pathophysiology and clinical complications of bone disease 30 3.8.2.1. Skeletal complications in Gaucher disease 30 3.8.2.2. Bone mineralisation and osteoclast activity in Gaucher disease 36 3.8.2.3. Variability of bone complications in patients with Gaucher disease 36 3.8.2.4. The impact of the disease in patients with skeletal pathology 37 3.8.2.5. Skeletal pathology in children with Gaucher disease 38 3.8.3. Assessment and monitoring of skeletal pathology 38 3.8.3.1. Qualitative imaging procedures 38 3.8.3.2. Quantitative imaging procedures 39 3.8.3.3. Semiquantitative staging and classification systems 40 3.8.3.4. Assessment of skeletal pathology 41 3.8.4. Therapy of skeletal pathology 42 3.8.4.1. Response of the skeleton to enzyme replacement therapy - clinical data 42 3.8.4.2. Reconversion of the yellow bone marrow 44 3.8.5. Conclusions 44 4. Therapy 48 4.1. Enzyme replacement therapy 48 4.1.1. Historical aspects 48 4.1.2. Non-neuronopathic Gaucher disease (previously known as type 1) 50 4.1.2.1. Quality of life 50 4.1.2.2. Haematological findings 52 4.1.2.3. Hepatosplenomegaly 52 4.1.2.4. Bone changes 52 4.1.2.5. Lung involvement 53 4.1.3. Acute neuronopathic Gaucher disease (previously known as type 2) 55 4.1.4. Chronic neuronopathic course (previously known as type 3) 55 4.1.5. Special considerations for children 56 4.1.6. Dose finding 58 4.1.7. Therapy monitoring 62 4.1.8. Side effects of enzyme replacement therapy 65 4.1.9. Enzyme replacement therapy and pregnancy 65 4.2. Small molecules 66 4.2.1. Substrate reduction 66 4.2.1.1. Miglustat 66 4.2.1.2. Genz-112638 68 4.2.2. Chaperones 68 4.3. Comparison of the effect of enzyme replacement therapy (Cerezyme®) and substrate inhibition (miglustat) 70 4.4. Gene Therapy 71 4.5. Concomitant therapy 72 5. Gaucher Registry 76 6. Patient self-help groups 80 Index 86Outros livros adicionais, que poderiam ser muito similares com este livro:
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