Fabry disease
By: Deborah Elstein, Gheona Altarescu, Michael Beck, editors
Publisher: Springer
Published: 2010
Place of publication: Dordrecht; New York
Language: eng
Number of pages: 512
ISBN-13: 9789048190324; 9789048190331
Subjects: Lysosomal storage diseases; Disorders; Fabry Disease; Lysosomes; Proteins; Metabolism
Notes: Includes bibliographical references and index.
Table of contents: title: Molecular genetics of Fabry disease and genotype-phenotype correlation / Andreas Gal; title: The structure of human alpha-galactosidase A and implications for Fabry disease / Abigail I. Guce and Scott C. Garman; title: Subcellular, cellular and organ pathology of Fabry disease / Milan Elleder; title: Biochemistry of Fabry disease / Martin Hérebâiécek and Jana Ledvinovâa; title: Clinically relevant examples of genotype-phenotype correlation / Gheona Altarescu; title: Laboratory diagnosis of Fabry disease / Bryan Winchester and Elisabeth Young; title: Biomarkers for Fabry disease / Johannes M.F.G. Aerts; title: Fabry disease case finding studies in high-risk populations / Gere Sunder-Plassmann and Manuela Fèodinger; title: Small molecule drug discovery for Fabry disease / Omid Motabar ... [et al.]; title: Clinical manifestations of Fabry disease : an overview / Atul Mehta; title: The heart in Fabry disease : from pathogenesis to enzyme replacement therapy / Christoph Kampmann and Aleés Linhart; title: Renal manifestations of Fabry disease / David G. Warnock ... [et al.]; title: Neurological manifestations in Fabry disease / Arndt Rolfs ... [et al.]; title: Dermatological manifestations of Fabry disease / Catherine H. Orteu; title: Histopathology of skin in Fabry disease / Carmen Navarro ... [et al.]; title: Bone and muscle involvement in Fabry disease / Dominique P. Germain; title: The eye in Fabry disease / Andrea Sodi; title: Pulmonary, ear and less commonly appreciated manifestations / Julian A.J. Raiman and Joe T.R. Clarke; title: Neuropsychiatric manifestations of AFD / Perri Segal and Annick Raas-Rothschild; title: Genetic counseling and psychosocial issues for individuals and their families with Fabry disease / Robin L. Bennett; title: Fabry disease in females / D.A. Hughes; title: Fabry disease in pediatric patients / Maryam Banikazemi; title: Experimental studies in mice on the vasculopathy of Fabry disease / James A. Shayman; title: Overview / Michael Beck; title: Agalsidase alfa in the treatment of Anderson-Fabry disease / Gregory M. Pastores; title: Agalsidase beta clinical trials and long term experience / Carlos E. Prada and Robert J. Hopkin; title: Analyses of agalsidase alfa and agalsidase beta for the treatment of Fabry disease / T. Andrew Burrow and Gregory A. Grabowski; title: Enzyme replacement therapy in children with Fabry disease / Uma Ramaswami; title: Pharmacological chaperone therapy for Fabry disease / Jian-Qiang Fan and Satoshi Ishii; title: Potential factors influencing treatment outcomes / G.E. Linthorst and C.E.M. Hollak; title: Symptomatic and ancillary therapy / Catharina Whybra-Trèumpler; title: The price of care versus the cost of caring / Joe T.R. Clarke; title: Fabry disease, a uniquely different lysosomal storage disorder / Deborah Elstein.