Gaucher Disease (eBook, PDF)

Redaktion: Futerman, Anthony H.; Zimran, Ari

• Format: PDF

Produktbeschreibung

In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto

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Produktdetails

• Verlag: Taylor & Francis eBooks
• Seitenzahl: 544
• Erscheinungstermin: 7. Juli 2006
• Englisch
• ISBN-13: 9781420005509
• Artikelnr.: 52836616

Autorenporträt

Anthony H. Futerman, Ari Zimran

Inhaltsangabe

Preface. Introduction. Molecular Biology. Enzymology. Prosaposin and
Saposin. Enzyme 3D Structure. Cellular Pathogenesis of Gaucher Disease.
Biochemistry of Glycolipids and Glucosylceramide. Understanding Gaucher
Disease in the Context of other LSDs. Animal Models of GD. Clinical
Features of Type 1. Clinical Features of Neurological Forms. Disease
Pathology. Diagnosis and Laboratory Features. Diagnostic Imaging.
Epidemiology and Screening Policy. ERT. SRT. Chaperone Therapy. New
Expression Systems for 2nd Generation ERT. Blood Brain Barrier and
Neuronopathic GD. BMT, Step Cell and Gene Therapy. Ethical Aspects.
Societal Aspects. Medical Aspects. Pharma Aspects. Patient Perspective.
Commentary and Summary.