rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Fabry Disease
  name:
    name part: Elstein, Deborah.
    role:
      role term: editor.
  name:
    name part: Altarescu, Gheona.
    role:
      role term: editor.
  name:
    name part: Beck, Michael.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: ne
    date issued: 2010
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XXXVII, 512 p. online resource.
  abstract: Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
  table of contents: 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.
  note: edited by Deborah Elstein, Gheona Altarescu, Michael Beck.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Metabolic diseases
  subject:
    topic: Medicine & Public Health
  subject:
    topic: Metabolic Diseases
  subject:
    topic: Human Genetics
  classification: RC627.5-632
  classification: 616.39
  related item:
    title info:
      title: Springer eBooks
  identifier: 9789048190331
  identifier: http://dx.doi.org/10.1007/978-90-481-9033-1
  record info:
    record creation date: 100803
    record change date: 20150519185114.0
    record identifier: 978-90-481-9033-1