Informazioni
Non ci sono recensioni
Punto di Riferimento
per Medici e Operatori Sanitari
per Medici e Operatori Sanitari
LIBRERIA STUDIUM
Lysosomal Storage Disorders: A Practical Guide, 2nd Edition
Anno
2022
Pagine
336
ISBN
9781119697282
130,00 €
DA SCONTARE
Lysosomal Storage Disorders
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.
List of Contributors
Preface to the First Edition
Preface to the Second Edition
Foreword
1 Lysosomal Storage Disorder: Historic Landmarks and Scientific Principles
Atul Mehta and Bryan Winchester
PART 1: General Aspects of Lysosomal Storage Diseases
2 The Lysosomal System: Physiology
Gennaro Napolitano, Frances M. Platt and Andrea Ballabio
3 The Lysosomal System: Pathology
Matthew Miscenyi and Steven U. Walkley
4 Clinical Aspects and Clinical Diagnosis
Michael Beck
5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases
Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills and Simon Heales
6 Newborn screening for Lysosomal Storage Disorders
Roy Peake
7 Genetics of Lysosomal Storage Disorders
Maria Fuller and Jack Goldblatt
8 Classification of Lysosomal Diseases
Bryan Winchester
PART 2: The Individual Diseases
9 Gaucher Disease
Deborah Elstein and Ari Zimran
10 Fabry Disease
Gregory Pastores and Atul Mehta
11 The Gangliosidoses
Michael Beck, Joe TR Clarke and Konrad Sandhoff
12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
Volkmar Gieselmann, David Wenger and Ingeborg Krägeloh-Mann
13 Types A and B Niemann–Pick Disease
Melissa P. Wasserstein, Robert J. Desnick and Edward H. Schuchman
14 Niemann–Pick Disease Type C
Marie T. Vanier, Frances M. Platt, Emily R. Eden and Marc C. Patterson
15 Other Lipidoses
15.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy
Thierry Levade and Jeffrey A. Medin
15.2 Lysosomal acid lipase deficiency
Manisha Balwani, Donna L. Bernstein and Greg Grabowski
16 The Mucopolysaccharidoses: An Introduction
Roberto Giugliani and Uma Ramaswami
16.1 Mucopolysaccharidosis type I
Anna Tylki-Szymanska
16.2 Mucopolysaccharidosis type II
Barbara Burton
16.3 Mucopolysaccharidosis type III
James Davison
16.4 Mucopolysaccharidosis type IV
Chris Hendrickz and Roberto Guigliani
16.5 Mucopolysaccharidosis type VI
Young Bae Sohn, Paul Harmatz and Torayuki Okuyama
16.6 Mucopolysaccharidosis type VII
Adriana Montano and William S. Sly
16.7 Mucopolysaccharidosis IX
Barbara Triggs-Raine, Promita Ghosh and Marvin Natowicz
17 Pompe Disease
Arnold Reuser, Ans T. van der Ploeg, Priya Kishnani and Pim Pijnappel
18 Glycoproteinoses
Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen
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
Nicole M. Muschol, Cornelia Rudolph and Thomas Braulke
20.2 Multiple sulphatase deficiency
Nicola Brunetti-Pierri, Graciana Diez-Roux and Andrea Ballabio
21 Lysosomal Membrane Defects
Michael Schwake and Paul Saftig
22 Neuronal Ceroid Lipofuscinoses
Jonathan D. Cooper, Sarah Mole, Angela Schultz and Ruth E. Williams
23 Miscellaneous disorders of the Lysosome: New Pathological Frontiers
Timothy M. Cox and Bryan Winchester
Part 3: Therapy and Patient Issues
24 Current Treatments
Michael Beck
25 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier
David J. Begley, Cinzia Bellettato and Maurizio Scarpa
26 Emerging Treatments
Gregory A. Grabowski and Derralynn Hughes
27 Lysosomal Storage Disorders in the Developing World
Chris Hendriks and Atul Mehta
28 The Patient Perspective on Rare Diseases
Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens and George Timmins
Index
