Περιγραφή
In the past few decades, we have witnessed a ‘golden age’ of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include:
- The general aspects of LSDs, with special attention paid to physiology and pathology
- Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs
- Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses
- Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism
- The existing and emerging treatments for LSDs
- Key patient issues such as availability and disease awareness, including in the Third World.
For researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.
Atul B. Mehta is Emeritus Professor at University College London. He trained in Medicine at Cambridge University and King’s College London; completed his doctorate at Imperial College London and works as a haematologist and physician in London. He was the Founder and Director of the Lysosomal Storage Disorders Centre at the Royal Free, which grew to be the largest centre in the UK and is one of the foremost clinical academic centres for LSDs in the world. His goal has always been to provide patient-centred care as part of a coordinated team of professionals. He now works in private practice, charitable, educational and research roles, including consultancy.
Bryan Winchester is Emeritus Professor of Biochemistry at the UCL Great Ormond Street Institute of Child Health, University College London. After studying Chemistry at Cambridge University, he obtained a Ph.D. in Biochemistry at University College London. He taught Biochemistry and carried out research on lysosomal storage diseases at London University for over 40 years. From 1988–2006, he worked closely with the Enzyme Diagnostic Laboratory at Great Ormond Street Hospital and was chairman of the European Study Group on Lysosomal Diseases from 1997–2007. On retirement he became a Trustee of the British MPS Society.
