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mehta lysosomal storage disorders practical guide 2ed 2022

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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

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Mehta A. Lysosomal Storage Disorders. A Practical Guide 2ed 2022.pdf 32.9 MB

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mehta lysosomal storage disorders practical guide 2ed 2022