Gaucher Disease

ISBN-13: 9780367390617 / Angielski / Miękka / 2019 / 552 str.

Anthony H. Futerman; Ari Zimran

Opis

The most current and comprehensive reference available, Gaucher Disease provides valuable information for academic and industry scientists, and clinicians. Outlining current research on the biochemistry and pathology of lysosomal storage disorders, this book covers diverse topics including animal models, crystallography, imaging and radionuclide evaluation. It addresses treatments such as enzyme replacement therapy, as well as emerging therapies. With contributions from world-renowned experts this book includes discussions on patient management, the ethics of research, and the use of expensive therapies to treating orphan diseases. In September of 2007, Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition.

Spis treści

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.

O autorze

Anthony H. Futerman, Ari Zimran