LYSOSOMAL STORAGE DISORDERS. A PRACTICAL GUIDE. 2ND EDITION

1 Lysosomal Storage Disorder: Historic Landmarks and Scientific Principles
• PART 1: General Aspects of Lysosomal Storage Diseases
2 The Lysosomal System: Physiology
3 The Lysosomal System: Pathology
4 Clinical Aspects and Clinical Diagnosis
5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases
6 Newborn screening for Lysosomal Storage Disorders
7 Genetics of Lysosomal Storage Disorders
8 Classification of Lysosomal Diseases
• PART 2: The Individual Diseases
9 Gaucher Disease
10 Fabry Disease
11 The Gangliosidoses
12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
13 Types A and B Niemann–Pick Disease
14 Niemann–Pick Disease Type C
15 Other Lipidoses
15.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
15.2 Lysosomal acid lipase deficiency
16 The Mucopolysaccharidoses: An Introduction
16.1 Mucopolysaccharidosis type I
16.2 Mucopolysaccharidosis type II
16.3 Mucopolysaccharidosis type III
16.4 Mucopolysaccharidosis type IV
16.5 Mucopolysaccharidosis type VI
16.6 Mucopolysaccharidosis type VII
16.7 Mucopolysaccharidosis IX
17 Pompe Disease
18 Glycoproteinoses
19 Defect in Protective Protein/Cathepsin A: Galactosialidosis Alessandra d’Azzo, Diantha van de Vlekkert and Ida Annunziata
20 Multiple Enzyme Deficiencies
20.1 Defects in Transport: Mucolipidosis II alpha/beta, Mucolipidosis III alpha/beta and Mucolipidosis III gamma
20.2 Multiple sulphatase deficiency
21 Lysosomal Membrane Defects
22 Neuronal Ceroid Lipofuscinoses
23 Miscellaneous disorders of the Lysosome: New Pathological Frontiers
• Part 3: Therapy and Patient Issues
24 Current Treatments
25 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier
26 Emerging Treatments
27 Lysosomal Storage Disorders in the Developing World
28 The Patient Perspective on Rare Diseases
Index

Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders
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.