Fabry Disease [electronic resource]

  • Elstein, Deborah. editor. , Altarescu, Gheona. editor. , Beck, Michael. editor.
  • 2010
Fabry Disease [electronic resource]
  • Data Type
  • Title/Author
    Fabry Disease[electronic resource] / edited by Deborah Elstein, Gheona Altarescu, Michael Beck.
  • Author
    Elstein, Deborah., editor., Altarescu, Gheona., editor., Beck, Michael., editor.
  • Authors
    SpringerLink (Online service)
  • Phy Desc.
    XXXVII, 512 p. : online resource.
  • Contents Note
    Pre-Clinical -- Molecular Genetics of Fabry Disease and Genotype?밣henotype 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?밣henotype 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.
  • Topical Term
    Human genetics.
    Metabolic diseases.
    Medicine & Public Health.
    Metabolic Diseases.
    Human Genetics.
  • Host Item
    Springer eBooks
  • Additional Item
    Printed edition: 9789048190324
  • ISBN
  • Language