Titlebook: Alagille Syndrome; Pathogenesis and Cli Binita M. Kamath,Kathleen M. Loomes Book 2018 Springer International Publishing AG, part of Springe

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https://doi.org/10.1007/978-3-540-74703-1l vasculature is frequently affected as well. In this chapter, we discuss in detail the spectrum and incidence of congenital cardiovascular disease in patients with Alagille syndrome, as well as recommended diagnostic approaches and findings, surveillance, management, and outcomes.

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Alagille Syndrome: Overview and Introduction,cription, there are many current clinical challenges and opportunities for the development of novel and effective therapies. In the subsequent chapters of this book, the extensive compilation of the knowledge about Alagille syndrome and Notch signaling will serve as a framework for investigation and

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Genetics of Alagille Syndrome,A hypothesis in the field is that another gene may function to modify features of the disease, and a growing number of candidate gene modifiers have now been proposed. We hope that further understanding of both the variable expressivity of this disease and the molecular function of reported missense

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Liver Disease in Alagille Syndrome,liver disease, cirrhosis, portal hypertension, and eventual need for liver transplantation. There is no specific treatment for hepatic disease in Alagille syndrome, and management focuses on treatment of symptoms of chronic cholestasis, including pruritus, xanthomata, malnutrition, and fat-soluble v

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Health-Related Quality of Life and Neurocognition in Alagille Syndrome,evelopment needs should be considered and assessed continuously to improve cognitive outcomes in the ALGS population. Multicenter research networks are needed to study neurocognitive outcomes in this very heterogeneous disease.

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