Zaccai e (6 Ergebnisse)

Zustand: Good. Volume 13. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. In good all round condition. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,650grams, ISBN:9780415414920. …

Zustand: Poor. Volume 13. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. Book contains pen & pencil markings. In poor condition, suitable as a reading copy. No dust jacket. Library sticker on front cover. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,650grams, ISBN:9780415414920.…

Zustand: Good. This is an ex-library book and may have the usual library/used-book markings inside.This book has soft covers. In good all round condition. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,550grams, ISBN:9780415479752.

Zustand: Poor. This is an ex-library book and may have the usual library/used-book markings inside.This book has soft covers. Book contains pen & pencil markings. In poor condition, suitable as a reading copy. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,550grams, ISBN:9780415479752.…

Zustand: Good. This is an ex-library book and may have the usual library/used-book markings inside.This book has hardback covers. Clean from markings. In good all round condition. Please note the Image in this listing is a stock photo and may not match the covers of the actual item,650grams, ISBN:9780415414920. …

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - 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.…