Name: Cerebrotendinous Xanthomatosis. A Treatable Rare Neurometabolic Disorder
Price: 4461.00 TWD
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Author: Andrea E. DeBarber;Tzipora C. Falik-Zaccai;Robert D. Steiner;Hidde H. Huidekoper;Antonio Federico
ISBN: 9783031925252

portada Cerebrotendinous Xanthomatosis. A Treatable Rare Neurometabolic Disorder

Cerebrotendinous Xanthomatosis. A Treatable Rare Neurometabolic Disorder

Type

Physical Book

Publisher

Springer International Publishing AG

Author

Andrea E. DeBarber;Tzipora C. Falik-Zaccai;Robert D. Steiner;Hidde H. Huidekoper;Antonio Federico

Year

2026

Pages

338

Format

Hardcover

Dimensions

23.50 x 15.50 cm

ISBN13

9783031925252

Cerebrotendinous Xanthomatosis. A Treatable Rare Neurometabolic Disorder

Andrea E. Debarber;Tzipora C. Falik-Zaccai;Robert D. Steiner;Hidde H. Huidekoper;Antonio Federico (Author) · Springer International Publishing AG · Hardcover

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Synopsis "Cerebrotendinous Xanthomatosis. A Treatable Rare Neurometabolic Disorder"

This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder. Cerebrotendinous xanthomatosis (CTX), first described in 1937, is a rare genetic disorder of bile acid synthesis that can cause developmental and cognitive disability, irreversible neurological damage and premature death. Left untreated, the syndrome is slowly progressive but can now be considered a treatable rare neurologic disease of lipid and bile metabolism. Early identification of this disorder, for example with newborn screening, would be highly significant as the burden of disease if left untreated can be profound, and morbidity and mortality easily prevented through early detection and treatment. The book collects the experience of expert physician-scientists and researchers from all over the world, beginning with the history of the disease and providing updates on the new molecular genetic data, the therapies and the international patient advocacy organizations, also with chapters reporting the experiences of the patients and calling for improved international basic research and clinical collaboration, aiming to advance understanding and enhance outcomes for CTX patients and their families, and foster patient group partnerships. The volume stems from the proceedings of an international meeting held in Jerusalem, Israel, where this disease was investigated for many years by a pioneer in the field, Prof. Vladimir Berginer at the Ben-Gurion University of the Negev. This meeting was hosted by the CTX Alliance, a patient advocacy group based in the USA.