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Fabry Disease

Fabry Disease

Paperback

Medical ReferenceGenetics

ISBN10: 9400798849
ISBN13: 9789400798847
Publisher: Springer
Published: Sep 29 2014
Pages: 512
Weight: 1.68
Height: 1.12 Width: 6.14 Depth: 9.21
Language: English
Pre-Clinical.- Molecular Genetics of Fabry Disease and Genotype-Phenotype Correlation.- The Structure of Human ?-Galactosidase A and Implications for Fabry Disease.- Subcellular, Cellular and Organ Pathology of Fabry Disease.- Biochemistry of Fabry Disease.- Clinically Relevant Examples of Genotype-Phenotype Correlation.- Laboratory Diagnosis of Fabry Disease.- Biomarkers for Fabry Disease.- Fabry Disease Case Finding Studies in High-Risk Populations.- Small Molecule Drug Discovery for Fabry Disease.- Clinical.- Clinical Manifestations of Fabry Disease: An Overview.- The Heart in Fabry Disease - from Pathogenesis to Enzyme Replacement Therapy.- Renal Manifestations of Fabry Disease.- Neurological Manifestations in Fabry Disease.- Dermatological Manifestations of Fabry Disease.- Histopathology of Skin in Fabry Disease.- Bone and Muscle Involvement in Fabry Disease.- The Eye in Fabry Disease.- Pulmonary, Ear and Less Commonly Appreciated Manifestations.- Neuropsychiatric Manifestations of AFD.- Genetic Counseling and Psychosocial Issues for Individuals and Their Families with Fabry Disease.- Fabry Disease in Females.- Fabry Disease in Pediatric Patients.- Experimental Studies in Mice on the Vasculopathy of Fabry Disease.- Management.- Overview.- Agalsidase Alfa in the Treatment of Anderson-Fabry Disease.- Agalsidase Beta Clinical Trials and Long Term Experience.- Analyses of Agalsidase Alfa and Agalsidase Beta for the Treatment of Fabry Disease.- Enzyme Replacement Therapy in Children with Fabry Disease.- Pharmacological Chaperone Therapy for Fabry Disease.- Potential Factors Influencing Treatment Outcomes.- Symptomatic and Ancillary Therapy.- The Price of Care Versus the Cost of Caring.

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