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Fabry Disease
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 v...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor Corporativo: | |
| Otros Autores: | , , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Dordrecht :
Springer Netherlands : Imprint: Springer,
2010.
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| Edición: | 1st ed. 2010. |
| Temas: | |
| Acceso en línea: | Texto Completo |
Tabla de Contenidos:
- 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.