Lysosomal storage disorders : a practical guide /

• Άλλοι συγγραφείς: Mehta, Atul B., Winchester, Bryan
• Μορφή: Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Chichester, West Sussex : Wiley-Blackwell, 2013.
• Θέματα: Lysosomal storage diseases.; Lysosomal Storage Diseases.; Lysosomes > pathology.; SCIENCE > Life Sciences > Cell Biology.; Electronic books.

Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a furthe...

Πίνακας περιεχομένων:

• The lysosomal system : physiology and pathology / Matthew C. Micsenyi and Steven U. Walkley
• Clinical aspects and clinical diagnosis / Ed Wraith and Michael Beck
• Laboratory diagnosis of lysosomal storage diseases / Bryan Winchester
• Genetics of lysosomal storage disorders and counseling / John J. Hopwood
• Classification of lysosomal storage diseases / Bryan Winchester
• Gaucher disease / Deborah Elstein and Ari Zimran
• Fabry disease / Atul Mehta and Uma Ramaswami
• The gangliosidoses / Joe T.R. Clarke
• Metachromatic leukodystrophy and globoid cell leukodystrophy / Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann
• Types A and B Niemannpick disease / Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman
• Niemannpick disease type C / Marie T. Vanier and Marc C. Patterson
• The mucopolysaccharidoses / Roberto Giugliani
• Pompe disease / Arnold J.J. Reuser and Ans T. van der Ploeg
• Glycoproteinoses / Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen
• Defect in protective protein/cathepsin A : galactosialidosis / Alessandra d'Azzo and Erik J. Bonten
• Multiple enzyme deficiencies
• Defects in transport : mucolipidosis II; mucolipidosis III, and mucolipidosis III / Annick Raas-Rothschild, Sandra Pohl, and Thomas Braulke
• Multiple sulfatase deficiency / Graciana Diez-Roux and Andrea Ballabio
• Lysosomal membrane defects / Michael Schwake and Paul Saftig
• Neuronal ceroid lipofuscinoses / Jonathan D. Cooper and Ruth E. Williams
• Other lysosomal disorders / Bryan Winchester and Timothy M. Cox
• Current treatments / Timothy M. Cox
• Central nervous system aspects, neurodegeneration, and the bloodbrain barrier / David J. Begley and Maurizio Scarpa
• Emerging treatments and future outcomes / T. Andrew Burrow and Gregory A. Grabowski
• Newborn, high risk, and carrier screening for lysosomal storage disorders / Gabor E. Linthorst and Carla E.M. Hollak
• The patient perspective on rare diseases / Alastair Kent, Christine Lavery, and Jeremy Manuel.