544 Pages
by
CRC Press
Also available as eBook on:
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
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.
Biography
Anthony H. Futerman, Ari Zimran
