Mehta A. Lysosomal Storage Disorders. A Practical Guide 2ed 2022

Textbook in PDF format

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. 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.
Lysosomal Storage Disorder: Historic Landmarks and Scientific Principles
General Aspects of Lysosomal Storage Diseases
Gennaro Napolitano, Frances M. Platt and Andrea Ballabio
The Lysosomal System: Pathology
Clinical Aspects and Clinical Diagnosis
Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases
Newborn screening for Lysosomal Storage Disorders
Genetics of Lysosomal Storage Disorders
Classification of Lysosomal Diseases
The Individual Diseases
Gaucher Disease
Fabry Disease
The Gangliosidoses
Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
Types A and B Niemann–Pick Disease
Niemann–Pick Disease Type C
Other Lipidoses
Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
Lysosomal acid lipase deficiency
The Mucopolysaccharidoses: An Introduction
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII
Mucopolysaccharidosis IX
Pompe Disease
Glycoproteinoses
Defect in Protective Protein/Cathepsin A: Galactosialidosis
Multiple Enzyme Deficiencies
Defects in Transport: Mucolipidosis II alpha/beta, Mucolipidosis III alpha/beta and Mucolipidosis III gamma
Multiple sulphatase deficiency
Lysosomal Membrane Defects
Neuronal Ceroid Lipofuscinoses
Miscellaneous disorders of the Lysosome: New Pathological Frontiers
Therapy and Patient Issues
Current Treatments
Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier
Emerging Treatments
Lysosomal Storage Disorders in the Developing World
The Patient Perspective on Rare Diseases