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Rett syndrome / edited by Walter E Kaufmann with Alan K Percy, Angus Clarke , Helen Leonard and Sakkubai Naidu

By: Kaufmann, Walter E.
Contributor(s): Archer, Hayley | Baikie, Gordon | Ben-Zeev, Bruria | Blue, Mary E | Brower, Sonia | Budden, Sarojini | Christidoulou, John | Clarke, Angus | Curfs, Leopold | Downs, Jenny | Ellaway, Carolyn | Eubanks, James H | Fabio, Rosa Angela | Glaze, Daniel G | Gold, Wendy A | Gonzales, Michael L | Hagberg, Bengt | Hunter, Kathy | Johnston, Walter E | Kerr, Alison | LaSalle, Janine M | Leonard, Helen | Mari, Francesca | Marschik, Peter B | Motil, Kathleen J | Naidu, SakkuBai | Neul, Jeffrey L | Nissenkorn, Andreea | Nomura, Yoshiko | Pery, Alan K | Pintaudi, Maria | Ramirez, Jan Marino | Renieri, Alessandra | Roye, David P | Sigafoos, Jeff | Temudo, Teresa | Townend, Gillian S | Ward, Christopher S | Williams, Brendon A.
Series: Clinics in developmental medicine: Publisher: London : Mac Keith Press, 2017Copyright date: 2017Description: xxv, 225 pages, 4 unnumbered pages of plates : illustrations (some color) ; 25 cm.Content type: text Media type: unmediated Carrier type: volumeISBN: 9781909962835.Subject(s): RETT SYNDROME | DIAGNOSIS | GENETICS | CHARACTERISTICS | HEALTH ISSUES | TREATMENT
Contents:
Foreword. - Bengt Bagberg : leading the way to Rett syndrome today, a tribute by Alan K. Percy. - Preface. - Prologue: personal perspectives. - 1. Diagnosis of Rett syndrome. - 2. The natural history of Rett syndrome: building on recent experience. - 3. The clinical genetis of Rett syndrome. - 4. Genetic sources of variation in Rett syndrome. - 5. Cognition, communication and behavior in individuals with Rett syndrome. - 6. Motor abnormalities in Rett syndrome. - 7. Orthopedic issues in Rett syndrome. - 8. Sleep issues in Rett syndrome. - 9. Epilepsy in Rett syndrome. - 10. Breathing abnormalities in Rett syndrome. - 11. Growth, feeding and nutrition and bone health in Rett syndrome. - 12. Molecular complexities of MeCP2 function in Rett syndrome. - 13. The neurobiology of Rett syndrome. - 14. Treatments for Rett syndrome : prospects for targeted therapies. - 15. Rehabilitation in Rett syndrome. - 16. Perspectives in Rett syndrome: where we are an where wo should go.
Summary: "Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant. Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher." - PUBLISHER'S WEBSITE
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Main Collection 770 KAU (Browse shelf) 1 Available W0011687
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Includes bibliographical references and index.

Foreword. - Bengt Bagberg : leading the way to Rett syndrome today, a tribute by Alan K. Percy. - Preface. - Prologue: personal perspectives. - 1. Diagnosis of Rett syndrome. - 2. The natural history of Rett syndrome: building on recent experience. - 3. The clinical genetis of Rett syndrome. - 4. Genetic sources of variation in Rett syndrome. - 5. Cognition, communication and behavior in individuals with Rett syndrome.
- 6. Motor abnormalities in Rett syndrome. - 7. Orthopedic issues in Rett syndrome. - 8. Sleep issues in Rett syndrome. - 9. Epilepsy in Rett syndrome. - 10. Breathing abnormalities in Rett syndrome. - 11. Growth, feeding and nutrition and bone health in Rett syndrome. - 12. Molecular complexities of MeCP2 function in Rett syndrome. - 13. The neurobiology of Rett syndrome. - 14. Treatments for Rett syndrome : prospects for targeted therapies. - 15. Rehabilitation in Rett syndrome. - 16. Perspectives in Rett syndrome: where we are an where wo should go.

"Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers. It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant. Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher." - PUBLISHER'S WEBSITE

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