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- 2010930427 contributor B12091316.
- 2010930427 created "c2010.".
- 2010930427 date "2010".
- 2010930427 date "c2010.".
- 2010930427 dateCopyrighted "c2010.".
- 2010930427 description "Bone and muscle involvement in Fabry disease / Dominique P. Germain -- The eye in Fabry disease / Andrea Sodi -- Pulmonary, ear and less commonly appreciated manifestations / Julian A.J. Raiman and Joe T.R. Clarke -- Neuropsychiatric manifestations of AFD / Perri Segal and Annick Raas-Rothschild -- Genetic counseling and psychosocial issues for individuals and their families with Fabry disease / Robin L. Bennett -- Fabry disease in females / D.A. Hughes -- Fabry disease in pediatric patients / Maryam Banikazemi -- Experimental studies in mice on the vasculopathy of Fabry disease / James A. Shayman -- Overview / Michael Beck -- Agalsidase alfa in the treatment of Anderson-Fabry disease / Gregory M. Pastores -- Agalsidase beta clinical trials and long term experience / Carlos E. Prada and Robert J. Hopkin -- Analyses of agalsidase alfa and agalsidase beta for the treatment of Fabry disease / T. Andrew Burrow and Gregory A. Grabowski -- Enzyme replacement therapy in children with Fabry disease / Uma Ramaswami -- Pharmacological chaperone therapy for Fabry disease / Jian-Qiang Fan and Satoshi Ishii -- Potential factors influencing treatment outcomes / G.E. Linthorst and C.E.M. Hollak -- Symptomatic and ancillary therapy / Catharina Whybra-Trèumpler -- The price of care versus the cost of caring / Joe T.R. Clarke -- Fabry disease, a uniquely different lysosomal storage disorder / Deborah Elstein.".
- 2010930427 description "Includes bibliographical references and index.".
- 2010930427 description "Molecular genetics of Fabry disease and genotype-phenotype correlation / Andreas Gal -- The structure of human alpha-galactosidase A and implications for Fabry disease / Abigail I. Guce and Scott C. Garman -- Subcellular, cellular and organ pathology of Fabry disease / Milan Elleder -- Biochemistry of Fabry disease / Martin Hérebâiécek and Jana Ledvinovâa -- Clinically relevant examples of genotype-phenotype correlation / Gheona Altarescu -- Laboratory diagnosis of Fabry disease / Bryan Winchester and Elisabeth Young -- Biomarkers for Fabry disease / Johannes M.F.G. Aerts -- Fabry disease case finding studies in high-risk populations / Gere Sunder-Plassmann and Manuela Fèodinger -- Small molecule drug discovery for Fabry disease / Omid Motabar ... [et al.] -- Clinical manifestations of Fabry disease : an overview / Atul Mehta -- The heart in Fabry disease : from pathogenesis to enzyme replacement therapy / Christoph Kampmann and Aleés Linhart -- Renal manifestations of Fabry disease / David G. Warnock ... [et al.] -- Neurological manifestations in Fabry disease / Arndt Rolfs ... [et al.] -- Dermatological manifestations of Fabry disease / Catherine H. Orteu -- Histopathology of skin in Fabry disease / Carmen Navarro ... [et al.] --".
- 2010930427 extent "xxxvii, 512 p. :".
- 2010930427 identifier "9048190320 (hbk. : alk. paper)".
- 2010930427 identifier "9048190339 (e-ISBN)".
- 2010930427 identifier "9789048190324 (hbk. : alk. paper)".
- 2010930427 identifier "9789048190331 (e-ISBN)".
- 2010930427 issued "2010".
- 2010930427 issued "c2010.".
- 2010930427 language "eng".
- 2010930427 publisher "Dordrecht ; New York : Springer,".
- 2010930427 subject "2011 I-755".
- 2010930427 subject "616.3/99 23".
- 2010930427 subject "Fabry Disease.".
- 2010930427 subject "Lysosomal storage diseases.".
- 2010930427 subject "Lysosomes metabolism.".
- 2010930427 subject "Proteins Metabolism Disorders.".
- 2010930427 subject "RC632.L94 F33 2010".
- 2010930427 subject "WD 205.5.L5".
- 2010930427 tableOfContents "Bone and muscle involvement in Fabry disease / Dominique P. Germain -- The eye in Fabry disease / Andrea Sodi -- Pulmonary, ear and less commonly appreciated manifestations / Julian A.J. Raiman and Joe T.R. Clarke -- Neuropsychiatric manifestations of AFD / Perri Segal and Annick Raas-Rothschild -- Genetic counseling and psychosocial issues for individuals and their families with Fabry disease / Robin L. Bennett -- Fabry disease in females / D.A. Hughes -- Fabry disease in pediatric patients / Maryam Banikazemi -- Experimental studies in mice on the vasculopathy of Fabry disease / James A. Shayman -- Overview / Michael Beck -- Agalsidase alfa in the treatment of Anderson-Fabry disease / Gregory M. Pastores -- Agalsidase beta clinical trials and long term experience / Carlos E. Prada and Robert J. Hopkin -- Analyses of agalsidase alfa and agalsidase beta for the treatment of Fabry disease / T. Andrew Burrow and Gregory A. Grabowski -- Enzyme replacement therapy in children with Fabry disease / Uma Ramaswami -- Pharmacological chaperone therapy for Fabry disease / Jian-Qiang Fan and Satoshi Ishii -- Potential factors influencing treatment outcomes / G.E. Linthorst and C.E.M. Hollak -- Symptomatic and ancillary therapy / Catharina Whybra-Trèumpler -- The price of care versus the cost of caring / Joe T.R. Clarke -- Fabry disease, a uniquely different lysosomal storage disorder / Deborah Elstein.".
- 2010930427 tableOfContents "Molecular genetics of Fabry disease and genotype-phenotype correlation / Andreas Gal -- The structure of human alpha-galactosidase A and implications for Fabry disease / Abigail I. Guce and Scott C. Garman -- Subcellular, cellular and organ pathology of Fabry disease / Milan Elleder -- Biochemistry of Fabry disease / Martin Hérebâiécek and Jana Ledvinovâa -- Clinically relevant examples of genotype-phenotype correlation / Gheona Altarescu -- Laboratory diagnosis of Fabry disease / Bryan Winchester and Elisabeth Young -- Biomarkers for Fabry disease / Johannes M.F.G. Aerts -- Fabry disease case finding studies in high-risk populations / Gere Sunder-Plassmann and Manuela Fèodinger -- Small molecule drug discovery for Fabry disease / Omid Motabar ... [et al.] -- Clinical manifestations of Fabry disease : an overview / Atul Mehta -- The heart in Fabry disease : from pathogenesis to enzyme replacement therapy / Christoph Kampmann and Aleés Linhart -- Renal manifestations of Fabry disease / David G. Warnock ... [et al.] -- Neurological manifestations in Fabry disease / Arndt Rolfs ... [et al.] -- Dermatological manifestations of Fabry disease / Catherine H. Orteu -- Histopathology of skin in Fabry disease / Carmen Navarro ... [et al.] --".
- 2010930427 title "Fabry disease / Deborah Elstein, Gheona Altarescu, Michael Beck, editors.".
- 2010930427 type "text".