| Description |
1 online resource (xxxvii, 512 pages) : tables, figures (some color) |
| Contents |
Molecular genetics of Fabry disease and genotype-phenotype correlation -- The structure of human x-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 molecular drug discovery for Fabry disease -- 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 -- 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 living |
| Summary |
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- |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Proteins -- Metabolism -- Disorders.
|
|
Lysosomal storage diseases.
|
|
Fabry Disease
|
|
Lysosomal Storage Diseases
|
|
Lysosomes -- metabolism
|
|
MEDICAL -- Endocrinology & Metabolism.
|
|
MEDICAL -- Nutrition.
|
|
Médecine.
|
|
Lysosomal storage diseases
|
|
Proteins -- Metabolism -- Disorders
|
| Form |
Electronic book
|
| Author |
Elstein, Deborah
|
|
Altarescu, Gheona
|
|
Beck, M. (Michael)
|
| ISBN |
9789048190331 |
|
9048190339 |
|
